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Sample records for branchio-oto-renal syndrome result

  1. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

    NARCIS (Netherlands)

    Kemperman, M.H.; Stinckens, C.I.C.; Kumar, S.; Huygen, P.L.M.; Joosten, F.B.M.; Cremers, C.W.R.J.

    2001-01-01

    OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. PATIENT

  2. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

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    Kameswaran, Mohan; Kumar, R. S. Anand; Murali, Sathiya; Raghunandhan, S.; Karthikeyan, K.

    2007-01-01

    Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi...

  3. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  4. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

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    Lindau, Tâmara Andrade

    2014-01-01

    Full Text Available Introduction Branchio-oto-renal (BOR syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

  5. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

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    Kelly, T.E. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  6. Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q

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    Kumar, Shrawan; Kimberling, W.J.; Pinnt, J. [Boys Town National Research Hospital, Omaha, NE (United States)] [and others

    1996-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has been localized to chromosome 8q. Here, we report genetic studies that further refine the disease gene region to a smaller interval and identify several YACs from the critical region. We studied two large, clinically well-characterized BOR families with a set of 13 polymorphic markers spanning the D8S165-D8S275 interval from the chromosome 8q region. Based on multipoint analysis, the highest likelihood for the location of the BOR gene is between markers D8S543 and D8S530, a distance of about 2 cM. YACs that map in the BOR critical region have been identified and characterized by fluorescence in situ hybridization and pulsed-field gel electrophoresis. A YAC contig, based on the STS content map, that covers a minimum of 4 Mb of human DNA in the critical region of BOR is assembled. This lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in BOR syndrome. 40 refs., 4 figs., 1 tab.

  7. Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

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    Mee Hyun Song

    Full Text Available BACKGROUND: Branchio-oto-renal (BOR or branchio-otic (BO syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. METHODS: The audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes. RESULTS: All patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene. CONCLUSIONS: Auditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.

  8. First and second branchial arch syndromes: multimodality approach

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    Senggen, Elodie; Laswed, Tarek; Meuwly, Jean-Yves; Maestre, Leonor Alamo; Meuli, Reto; Gudinchet, Francois [University Hospital of Lausanne, Radiology Department, Lausanne (Switzerland); Jaques, Bertrand [University Hospital of Lausanne, Department of Otorhinolaryngology, Lausanne (Switzerland)

    2011-05-15

    First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatment. (orig.)

  9. BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

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    Amna Musharraf

    Full Text Available Mutations in the human EYA1 gene have been associated with several human diseases including branchio-oto (BO and branchio-oto-renal (BOR syndrome, as well as congenital cataracts and ocular anterior segment anomalies. BOR patients suffer from severe malformations of the ears, branchial arches and kidneys. The phenotype of Eya1-heterozygous mice resembles the symptoms of human patients suffering from BOR syndrome. The Eya1 gene encodes a multifunctional protein that acts as a protein tyrosine phosphatase and a transcriptional coactivator. It has been shown that Eya1 interacts with Six transcription factors, which are also required for nuclear translocation of the Eya1 protein. We investigated the effects of seven disease-causing Eya1 missense mutations on Eya1 protein function, in particular cellular localization, ability to interact with Six proteins, and protein stability. We show here that the BOR-associated Eya1 missense mutations S454P, L472R, and L550P lead to enhanced proteasomal degradation of the Eya1 protein in mammalian cells. Moreover, Six proteins lead to a significant stabilization of Eya1, which is caused by Six-mediated protection from proteasomal degradation. In case of the mutant L550P, loss of interaction with Six proteins leads to rapid protein degradation. Our observations suggest that protein destabilization constitutes a novel disease causing mechanism for Eya1.

  10. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  11. The Eya1 phosphatase promotes Shh signaling during hindbrain development and oncogenesis.

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    Eisner, Adriana; Pazyra-Murphy, Maria F; Durresi, Ershela; Zhou, Pengcheng; Zhao, Xuesong; Chadwick, Emily C; Xu, Pin-Xian; Hillman, R Tyler; Scott, Matthew P; Greenberg, Michael E; Segal, Rosalind A

    2015-04-06

    Sonic hedgehog (Shh) signaling is critical in development and oncogenesis, but the mechanisms regulating this pathway remain unclear. Although protein phosphorylation clearly affects Shh signaling, little is known about phosphatases governing the pathway. Here, we conducted a small hairpin RNA (shRNA) screen of the phosphatome and identified Eya1 as a positive regulator of Shh signaling. We find that the catalytically active phosphatase Eya1 cooperates with the DNA-binding protein Six1 to promote gene induction in response to Shh and that Eya1/Six1 together regulate Gli transcriptional activators. We show that Eya1, which is mutated in a human deafness disorder, branchio-oto-renal syndrome, is critical for Shh-dependent hindbrain growth and development. Moreover, Eya1 drives the growth of medulloblastoma, a Shh-dependent hindbrain tumor. Together, these results identify Eya1 and Six1 as key components of the Shh transcriptional network in normal development and in oncogenesis.

  12. Incudomalleal joint formation: the roles of apoptosis, migration and downregulation

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    Matalova Eva

    2007-12-01

    Full Text Available Abstract Background The middle ear of mammals is composed of three endochondrial ossicles, the stapes, incus and malleus. Joints link the malleus to the incus and the incus to the stapes. In the mouse the first arch derived malleus and incus are formed from a single Sox9 and Type II collagen expressing condensation that later subdivides to give rise to two separate ossicles. In contrast the stapes forms from a separate condensation derived from the second branchial arch. Fusion of the malleus and incus is observed in a number of human syndromes and results in conductive hearing loss. Understanding how this joint forms during normal development is thus an important step in furthering our understanding of such defects. Results We show that the developing incudomalleal joint is characterised by a lack of proliferation and discrete areas of apoptosis. Apoptosis has been suggested to aid in the removal of pre-cartilaginous cells from the joint region, allowing for the physical separation of the cartilaginous elements, however, we show that joint initiation is unaffected by blocking apoptosis. There is also no evidence of cell migration out of the presumptive joint region, as observed by labelling of joint and ossicle cells in culture. Using Type II collagen lacZ reporter mice, however, it is evident that cells in the presumptive joint region remain in place and downregulate cartilage markers. Conclusion The malleus and incus first appear as a single united condensation expressing early cartilage markers. The incudomalleal joint region forms by cells in the presumptive joint region switching off cartilage markers and turning on joint markers. Failure in this process may result in fusion of this joint, as observed in human syndromes such as Branchio-Oto-Renal Syndrome or Treacher Collins Syndrome.

  13. Compartment Syndrome as a Result of Systemic Capillary Leak Syndrome

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    Kwadwo Kyeremanteng

    2016-01-01

    Full Text Available Objective. To describe a single case of Systemic Capillary Leak Syndrome (SCLS with a rare complication of compartment syndrome. Patient. Our patient is a 57-year-old male, referred to our hospital due to polycythemia (hemoglobin (Hgb of 220 g/L, hypotension, acute renal failure, and bilateral calf pain. Measurements and Main Results. The patient required bilateral forearm, thigh, and calf fasciotomies during his ICU stay and continuous renal replacement therapy was instituted following onset of acute renal failure and oliguria. Ongoing hemodynamic (Norepinephrine and Milrinone infusion and respiratory (ventilator support in the ICU was provided until resolution of intravascular fluid extravasation. Conclusions. SCLS is an extremely rare disorder characterized by unexplained episodic capillary hyperpermeability, which causes shift of volume and protein from the intravascular space to the interstitial space. Patients present with significant hypotension, hemoconcentration, hypovolemia, and oliguria. Severe edema results from leakage of fluid and proteins into tissue. The most important part of treatment is maintaining stable hemodynamics, ruling out other causes of shock and diligent monitoring for complications. Awareness of the clinical syndrome with the rare complication of compartment syndrome may help guide investigations and diagnoses of these critically ill patients.

  14. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

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    Weiss, S.; Korostishevsky, M. [Sackler Faculty of Medicine, Ramat-Aviv (Israel); Frydman, M. [Haim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  15. EXAMINATION RESULTS OF CHILDREN WITH CERVICAL SYNDROME

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    N. H. Bakhteeva

    2010-01-01

    Full Text Available By the example of examination of 80 children aged from 4 to 18 with cervical syndrome it is indicated, that the diagnosed abnormalities of hemodynamics in vertebrobasilar basin in patients of all age groups are connected both with bone and vascular pathology of the cervical part of the spine. The pathology has functional or congenital character. Early detection of discicirculatory vascular injuries in the cervical part of the spine in children with cervical syndrome will allow to define the therapeutic management of patients and to prolong juvenile osteochondrosis clinical behaviour.

  16. [Psychometric results in patients with Klinefelter syndrome].

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    Gutezeit, G; Münke, M; Tolksdorf, M

    1982-08-01

    In psychodiagnostic investigation 12 Klinefelter-patients and 12 psychosomatic patients matched for age and socioeconomic status were compared. Our results are generally in agreement with the observations in recent research concerning some personality traits. 1. The intelligence of Klinefelter-patients rather meets the mark of practical than educational standards. Therefore these patients quite often fail at school, which otherwise is adequate to the level of their general-IQ. 2. Klinefelter-patients generally score low in the masculinity-scale. Equally remarkable is the tendency towards introversion, shyness, inhibition and an unstable emotionality.

  17. Varfarin in the complex treatment of antiphospholipid syndrome: preliminary results

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    T M Reshetnyak

    2003-01-01

    Full Text Available Objective. To assess efficacy and tolerance of varfarin in prophylaxis and therapy of thrombotic complications in patients with antiphospholipid syndrome (APS. Methods. 20 pts with APS (5 male and 15 female received varfarin during a year. 8 of them had primary APS (PAPS and 12 -systemic lupus erythematosus with APS (SLE+APS. 2 other pts (I with SLE+APS and I with PAPS received varfarin during the last 4 years. Nobody from 9 pts with PAPS received corticosteroids (CS. In SLE+APS pts CS dose varied from 4 to 20 mg/day and was not increased during follow up. During the study prothrombine time (PT was examined with thromboplastin ( manufactured by Renam having international sensitivity index 1,2 and international normalization relation (INR. Depending on treatment scheme APS pts were divided into 3 groups. Group 1 included 8 pts with INR<2,0, Group 2-7 with INR >3,0, group 3 - 7 pts with INR<2,0 receiving as additional treatment thrombo ASS 100 mg/day and vasonit from 600 to 1200 mg/day. Results. Two pts with INR = 1,8 had thrombosis recurrence (due to leg thrombophlebitis. There were no recurrences in other groups. 2 from 22 pts had "large" bleedings. "Small" bleedings episodes were noted in 7 from 22 pts. Largely that were subcutaneous bleedings (in 4 pts no more than 5 cm of size. Two pts receiving varfarin with INR 1,8 and 2,4 had renal colic. Conclusion. Our preliminary results prove the necessity of inclusion of varfarin in the treatment of pts with APS and thrombosis but intensive anticoagulant effect is not always desired.

  18. Good result after surgical treatment of Pellegrini-Stieda syndrome.

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    Theivendran, Kanthan; Lever, Caroline J; Hart, William J

    2009-10-01

    Ossification of the femoral attachment of the medial collateral ligament (MCL) of the knee with associated pain and restricted movements is rare and is characteristic of the Pellegrini-Stieda (PS) syndrome. Although in mild cases conservative treatment is often successful, patients with more significant bone formation and persistent symptoms require surgical excision. We describe a case of PS syndrome with a description of the surgical technique consisting of excision of the bony lesion and reconstruction of the MCL by using the adductor magnus tendon.

  19. Metabolic syndrome in rheumatoid arthritis: role of adiponectin (preliminary results

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    Yulia Nikolaevna Gorbunova

    2013-01-01

    Full Text Available The clinical value of the disorders and diseases integrated within the metabolic syndrome (MS is in the combination of traditional risk factors for cardiovascular diseases (CVD, which significantly accelerates the development of cardiovascular events (CVEs. The detection rate for MS in patients with rheumatoid arthritis (RA is shown to be higher than in the controls regardless of the diagnostic criteria for MS. At present, there are confusing data on the role of adipokins in RA. Objective: to determine the rate of MS and its components in RA patients and the association of the level of adipokin (adiponectin with the components of MS in relation to the duration of RA. Subjects and methods: The investigation enrolled 69 RA patients divided into two groups: 1 34 patients with early-stage (<2-year RA and 2 35 patients with end-stage (>2-year RA. Results. MS occurred in 12 (17.4% of the 69 patients with RA. There was central (abdominal obesity in 37 (53.6% patients with RA, hypertension in 29 (42%, low high-density cholesterol levels in 20 (29%, hyperglycemia in 11 (15.9%, and hypertriglyceridemia in 10 (14.5%. According to the presence or absence of MS, the patients were divided into 2 groups: 1 12 patients with MS; 2 57 without MS. In the patients with RA and MS, the duration of the disease was shorter; DAS28 and CDAI were higher than in those without MS: 15.4 [7; 24] months versus 51.8 [6; 72] months; DAS28 was 5.8 [4.9; 6.7] scores versus 5.1 [4.5; 5.8] scores; CDAI: 34.8 [21.8; 41.4] scores versus 24.2 [18; 31] scores, respectively (p < 0.05 in all cases. The serum level of adiponectin was lower: 13.1 [5.7; 10.7] ng/ml versus 20.6 [6.9; 30.9] ng/ml in the patients with RA and MS as compared to those without MS; but there were no significant differences. In the patients with early-end RA, the rate of MS was twice higher than that in those with end-stage RA; however, the differences were statistically insignificant (p = 0.1. The components of MS

  20. Treatments for Infertility Resulting from Polycystic Ovary Syndrome (PCOS)

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    ... Information Clinical Trials Resources and Publications Treatments for Infertility Resulting from PCOS Skip sharing on social media ... reason for these problems. Before beginning treatment for infertility possibly related to PCOS, be sure that your ...

  1. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

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    Stefan Mariana

    2010-12-01

    Full Text Available Abstract Objective To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE countries, with a particular interest on the diagnostic facilities in these countries. Methods Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire. Results Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF, 14 with mevalonate-kinase deficiency (MKD, 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA. Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS patients. Conclusions The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.

  2. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

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    Ng, David; Thakker, Nalin; Corcoran, Connie M; Donnai, Dian; Perveen, Rahat; Schneider, Adele; Hadley, Donald W; Tifft, Cynthia; Zhang, Liqun; Wilkie, Andrew O M; van der Smagt, Jasper J; Gorlin, Robert J; Burgess, Shawn M; Bardwell, Vivian J; Black, Graeme C M; Biesecker, Leslie G

    2004-04-01

    Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are situated respectively at Xq27-q28 (refs. 1,2) and Xp11.4-p21.2 (ref. 3). We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus. Oculofaciocardiodental syndrome (OFCD; OMIM 300166) is inherited in an X-linked dominant pattern with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. Given their phenotypic overlap, we proposed that OFCD and MAA2-associated Lenz microphthalmia were allelic, and we found different frameshift, deletion and nonsense mutations in BCOR in seven families affected with OFCD. Like wild-type BCOR, BCOR P85L and an OFCD-mutant form of BCOR can interact with BCL-6 and efficiently repress transcription. This indicates that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL-6. We cloned the zebrafish (Danio rerio) ortholog of BCOR and found that knock-down of this ortholog caused developmental perturbations of the eye, skeleton and central nervous system consistent with the human syndromes, confirming that BCOR is a key transcriptional regulator during early embryogenesis.

  3. Acute compartment syndrome of hand resulting from radiographic contrast iohexol extravasation

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    Kolar Vishwanath Vinod

    2016-01-01

    Full Text Available Intravenous (IV administration of iodinated contrast agents (ICAs is frequently employed for image enhancement while performing radiographic studies such as computed tomography and angiography. Complications related to IV administration of ICAs such as immediate hypersensitivity reactions and nephrotoxicity are well-known. However, severe skin and soft tissue injuries and acute compartment syndrome resulting from contrast extravasation are rare. This is especially so with small volume extravasation of a low osmolar, nonionic ICA such as iohexol. Here, we report a 63-year-old woman who developed acute compartment syndrome of left hand following iohexol extravasation and had swelling, blistering, cutaneous and soft tissue necrosis. She underwent fasciotomy for acute compartment syndrome of hand and later surgical debridement of necrotic skin and soft tissues was carried out. Clinical pharmacology of ICAs, extravasation injuries following their IV administration, their management and measures to reduce them are discussed in brief.

  4. STUDIES ON PATHOGENESIS OF WAARDENBURG SYNDROME TYPE ⅡAND TIETZ SYNDROME RESULTING FROM MITF GENE MUTATIONS

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    ZHANG Hua; LI Jiada; LUO Hunjin; CHEN Hongsheng; MEI Lingyun; HE Chufeng; JIANG Lu; FENG Yong

    2013-01-01

    Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation through directly regulating the expression of the tyrosinase (TYR) and tyrosinase-related proteins 1 and 2 (TYRP1 and TYRP2) genes. MITF mutations have been reported to result in an abnormal melanocyte devel-opment and lead to Waardenburg syndrome type 2 (WS2), characterized by variable degrees of sensorineu-ral hearing loss and patchy regional distribution of hypopigmentation. Recently, MITF was also indicated as a causative gene for a more severe syndrome, the Tietz Syndrome (TS), characterized by generalized hy-popigmentation and complete hearing loss. However, few functional studies have been performed to com-pare the diseases-causing mutations. Here, we analyzed the in vitro activity of two recent identified WS2-as-sociated mutation (p.R217I and p.T192fsX18) and one TS-associated mutation p.N210K. The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter due to loss of DNA-binding activity, and aberrant subcellular localization. The aberrant subcellular localization of T192fsX18 MITF may be caused by deletion of a putative nuclear localization signal (NLS) at aa 213-218 (ERRRRF). Indeed, MITF with deletion of the NLS fragment failed to translocate into the nucleus and activated the TYR promoter. Tagging this NLS to GFP promoted the green fluorescence protein (GFP) translocated into the nucleus. The surprising finding of our study is that a TS-as-sociated MITF mutation, N210K, showed comparable in vitro activity as WT. Thus, the possible involve-ment of MITF in TS and its underlying mechanisms still need further investigation.

  5. False Positive Results of Carpal tunnel syndrome in Electro Diagnosis Tests

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    MR Emad

    2010-07-01

    Full Text Available Introduction & Objective: Carpal tunnel syndrome is identified due to compression of median nerve at wrist and develops symptoms such as wrist pain, paresthesia, numbness and the dysfunction of the hands. The gold standard to diagnose, determining prognosis and planning treatment process based on the severity of nerve involvement are electro-diagnosis tests. The purpose of this study was to specify the least and the most false positive results in common electro-diagnosis tests. Materials & Methods: This descriptive study was conducted at Shiraz University of Medical Sciences in 2009. Twelve different electro-diagnosis tests on fifty-five normal cases (110 available hands, which never had experienced the symptoms of this syndrome, were carried out. The data was statistically analyzed by SPSS software, using T test and Cochran's `Q. Results: There were false positive results in many of the performed tests. The most false-positive result was in- difference between median and ulnar motor distal latencies- test with the rate of 15.5% and the lowest false positive result was in- difference between median and ulnar sensory distal latencies of digit 4- test with the rate of 0%. Conclusion: This study revealed that tests which evaluate the differences between median and ulnar or radial nerves sensory distal latency (in the finger 4 and or 1, respectively, had less false positive results, and are more reliable in suspected cases of this syndrome. Also by using several different electro-diagnostic tests, rapid and efficient diagnosis can be achieved.

  6. Treating metabolic syndrome's metaflammation with low level light therapy: preliminary results

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    Yoshimura, Tania M.; Kato, Ilka T.; Deana, Alessandro M.; Ribeiro, Martha S.

    2014-02-01

    Metabolic syndrome comprises a constellation of morbidities such as insulin resistance, hyperinsulinemia, atherogenic dyslipidemia, dysglycemia and obesity (especially abdominal). Metabolic alterations are observed in major insulin target organs, increasing the risk of cardiovascular diseases, type-2 diabetes and therefore mortality. Tissue alterations are characterized by immune cells infiltrates (especially activated macrophages). Released inflammatory mediators such as TNF-α induce chronic inflammation in subjects with metabolic syndrome, since inflammatory pathways are activated in the neighboring cells. The intra-abdominal adipose tissue appears to be of particular importance in the onset of the inflammatory state, and strategies contributing to modulate the inflammatory process within this adipose tissue can mitigate the metabolic syndrome consequences. Considering the low level light therapy (LLLT) recognized benefits in inflammatory conditions, we hypothesized this therapeutic approach could promote positive effects in modulating the inflammatory state of metabolic syndrome. That being the scope of this study, male C57BL/6 mice were submitted to a high-fat/high-fructose diet among 8 weeks to induce metabolic syndrome. Animals were then irradiated on the abdominal region during 21 days using an 850 nm LED (6 sessions, 300 seconds per session, 60 mW output power, ~6 J/cm2 fluence, ~19 mW/cm2 fluence rate). Before and during treatment, blood was sampled either from the retroorbital plexus or from tail puncture for glucose, total cholesterol and triglycerides analysis. So far our results indicate no alterations on these metabolic parameters after LLLT. For further investigations, blood was collected for plasma inflammatory cytokine quantification and fresh ex vivo samples of liver and intra-abdominal adipose tissue were harvested for immunohistochemistry purposes.

  7. Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?

    Science.gov (United States)

    Kara, Ozgun Kaya; Mutlu, Akmer; Gunel, Mintaze Kerem; Haliloglu, Goknur

    2010-12-29

    This study aimed to investigate the benefits of physiotherapy programme in a patient with Angelman syndrome (AS) during a follow-up of 3 years. Assessments included: disability level with gross motor function classification systems, gross motor function with gross motor function measurement (GMFM), balance with Berg Balance Scale, motor performance with gross motor performance measurement (GMPM) and tonus assessment with Modified Ashworth Scale. Physiotherapy programme was performed during 36 months, 3 days per week by physical therapist according to Neurodevelopmental Treatment approach. During the 36 months, GMFM increased from 11.46% to 70.82% and GMPM increased from 1.25% to 70.25%. This case report is the first study about the effectiveness of physiotherapy with medium-term follow-up in a child with AS. Physiotherapy results make us happy in this particular patient with 'happy puppet' syndrome.

  8. Surgical treatment results of hand deformities in patients with Apert syndrome

    Directory of Open Access Journals (Sweden)

    Ufuk Nalbantoglu

    2015-12-01

    Results: The mean age at the first operation was 2.7 years and the mean number of operations was 3 per patient. No patient developed graft-flap necrosis and no patients required amputations. All patients were able to perform grasping and pinching functions and families were satisfied with the cosmetic results. Conclusion: Using a two-stage surgical protocol, achieving satisfactory results with a minimal number of operations is possible in patients with Apert Syndrome. [Hand Microsurg 2015; 4(3.000: 53-57

  9. 5 YEAR PHYSIOTHERAPY AND REHABILITATION RESULTS OF THE PATIENT WITH MILLER FISHER SYNDROME

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    Bihter AKINOĞLU

    2016-08-01

    Full Text Available Background: Miller-Fisher syndrome (MFS is characterized by gait ataxia, external ophtalmoplegia and areflexia and thought as an uncommon variant of Guillain Barre syndrome. Miller-Fisher syndrome is observed in about 5-8% of all Guillain Barre syndrome (GBS cases. In MFS patients, spontaneous improvement was observed in the first 3 months and these improvements were started by the 2nd week. Methods: This case was referred to physiotherapy and rehabilitation program at the 4th week since the appropriate medical treatments were unsuccessful after the attack. The patient was evaluated generally before physiotherapy program, and muscle length, strength loss, deep tendon reflexes, postural impairments and daily difficult activities and positions were assessed. Besides, the desired daily activities were identified by The Canadian Occupational Performance Measure (COPM. Treatment program was adjusted according to the patient and changes during treatment period were observed. Physiotherapy program included classical physiotherapy methods: posture correction, correction of short muscles, muscle strengthening, flexibility increase, balance/coordination, sitting and standing functions and walking improvement and climbing up stairs. Results: After the treatment, lower extremity muscle shortness decreased and muscle strength, standing on one foot duration, independent walk speed increased in time. Before treatment, he could not climbing upstairs, but it was achieved 1 year after the treatment. Berg balance score increased in time and his most desired activities by COPM (10/10 were could be performed after the treatment. Conclusion: The case improved with physiotherapy and rehabilitation program gradually with years.In the treatment of MFS patients, physiotherapy and rehabilitation being part of the treatment will be useful.

  10. The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

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    Shin-Yu Lin

    Full Text Available A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

  11. The European patient with Dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome.

    Science.gov (United States)

    Aras, Luis Miguel; Isla, Julián; Mingorance-Le Meur, Ana

    2015-03-01

    Dravet syndrome is a rare form of epilepsy largely refractory to current antiepileptic medications. The only precedents of randomized placebo-controlled trials in Dravet syndrome are the two small trials that led to the approval of stiripentol. With the arrival of new clinical trials for Dravet syndrome, we sought to determine the characteristics of the patient population with Dravet syndrome in Europe today, which has possibly evolved subsequent to the approval of stiripentol and the ability to diagnose milder clinical cases via genetic testing. From May to June 2014, we conducted an online parent-reported survey to collect information about the demographics, disease-specific clinical characteristics, as well as current and past use of antiepileptic medications by European patients with Dravet syndrome. We present data from 274 patients with Dravet syndrome from 15 European countries. Most patients were between 4 and 8years of age, and 90% had known mutations in SCN1A. Their epilepsy was characterized by multiple seizure types, although only 45% had more than 4 tonic-clonic seizures per month on average. The most common drug combination was valproate, clobazam, and stiripentol, with 42% of the total population currently taking stiripentol. Over a third of patients with Dravet syndrome had taken sodium channel blockers in the past, and most had motor and behavioral comorbidities. Our study helps define the current typical European patient with Dravet syndrome. The results from this survey may have important implications for the design of future clinical trials that investigate new treatments for Dravet syndrome.

  12. The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

    Science.gov (United States)

    Lin, Shin-Yu; Hsieh, Chia-Jung; Chen, Yi-Li; Shaw, S W Steven; Steven Shaw, Sheng-Wen; Lin, Ming-Wei; Chen, Pau-Chung; Lee, Chien-Nan

    2013-01-01

    A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

  13. Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Carotti, Adriano; Digilio, Maria Cristina; Piacentini, Gerardo; Saffirio, Claudia; Di Donato, Roberto M.; Marino, Bruno

    2008-01-01

    Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic…

  14. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

    Science.gov (United States)

    Milewicz, D. M.; Duvic, M.

    1994-01-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. We studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secret fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Marfan syndrome. We conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. Images Figure 1 Figure 2 Figure 3 PMID:8116614

  15. Severe neonatal marfan syndrome resulting from a De Novo 3-bp insertion into the fibrillin gene on chromosome 15

    Energy Technology Data Exchange (ETDEWEB)

    Milewicz, D.M.; Duvic, M. (Univ. of Texas Medical School, Houston, TX (United States))

    1994-03-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. The authors studied an infant with severe neonatal Marfan syndrome. Dermal fibroblasts were metabolically labeled and found to secrete fibrillin inefficiently when compared with control cells. Reverse transcription and amplification of the proband's fibroblast RNA was used to identify a 3-bp insertion between nucleotides 480-481 or 481-482 of the fibrillin cDNA. The insertion maintains the reading frame of the protein and inserts a cysteine between amino acids 160 and 161 in an epidermal growth-factor-like motif of fibrillin. This 3-bp insertion was not found in the fibrillin gene in 70 unrelated, unaffected individuals and 11 unrelated individuals with the Maran syndrome. The authors conclude that neonatal Marfan syndrome is the result of mutations in the fibrillin gene on chromosome 15 and is part of the Marfan syndrome spectrum. 32 refs., 3 figs.

  16. Lithium Toxicity and Neurologic Effects: Probable Neuroleptic Malignant Syndrome Resulting from Lithium Toxicity

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    Osamede Edokpolo

    2012-01-01

    Full Text Available Introduction. We present the case of a patient who developed lithium toxicity with normal therapeutic levels, as a result of pharmacokinetic interaction with Valsartan, and probable Neuroleptic Malignant Syndrome from the ensuing lithium toxicity. Case Presentation. A 59-year old black male with bipolar disorder maintained on lithium and fluphenazine therapy presented with a 2 week history of worsening confusion, tremor, and gait abnormality. He recently had his dose of Valsartan increased. At presentation, patient had signs of autonomic instability, he was confused, dehydrated, and had rigidity of upper extremities. Significant labs on admission were lithium level-1.2, elevated CK-6008, leukocytosis WBC-22, and renal impairment; Creatinine-4.1, BUN-35, HCO3-20.1, and blood glucose 145. CT/MRI brain showed old cerebral infarcts, and there was no evidence of an infective process. Lithium and fluphenazine were discontinued, his lithium levels gradually decreased, and he improved with supportive treatment including rehydration and correction of electrolyte imbalance. Conclusions. This case illustrates that lithium toxicity can occur within therapeutic levels, and the neurotoxic effect of lithium can include Neuroleptic Malignant Syndrome. Clinicians should be aware of the risk associated with drug interactions with lithium.

  17. To modulate or not to modulate: differing results in uniquely shaped Williams syndrome brains.

    Science.gov (United States)

    Eckert, Mark A; Tenforde, Adam; Galaburda, Albert M; Bellugi, Ursula; Korenberg, Julie R; Mills, Debra; Reiss, Allan L

    2006-09-01

    Voxel based morphometry (VBM) studies of Williams syndrome (WS) have demonstrated remarkably consistent findings of reduced posterior parietal gray matter compared to typical controls. Other WS VBM findings have been inconsistent, however. In particular, different findings have been reported for hypothalamus and orbitofrontal gray matter regions. We examined a sample of 8 WS and 9 control adults and show that the hypothalamus and orbitofrontal cortex results depend on whether the images undergo Jacobian modulation. Deformation based morphometry (DBM) analysis demonstrated that major brain shape differences between the groups accounted for the Jacobian modulated gray matter findings. These results indicate that cautious interpretations of modulated gray matter findings are warranted when there are gross shape and size differences between experimental groups. This study demonstrates the importance of methodological choices towards understanding a disorder like WS, but also highlights the consistency of parietal lobe, orbitofrontal, and midbrain findings for this disorder across methodologies, participants, and research groups.

  18. Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

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    Tesiorowski Maciej

    2010-11-01

    Full Text Available Abstract Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years. The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142° and 75.6 ± 26.7° (range 40° - 108° respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105° and 58.5 ± 27.7° (range 10° - 95° respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4% and 26.3 ± 21.2% (range 7.9 - 75%. Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°, and lordosis was 50.8 ± 18.6° (range 20° -79°. Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15° postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

  19. Cardiac arrest secondary to type 2 Kounis syndrome resulting from urticaria and angioedema.

    Science.gov (United States)

    Connor, Suzy; Child, Nick; Burdon-Jones, David; Connor, Andrew

    2010-07-01

    A 43-year-old man with no cardiac history presented with chest pain followed by cardiac arrest. He was successfully defibrillated and underwent primary percutaneous coronary angioplasty to a culprit coronary artery lesion. He later re-presented with a diffuse urticarial rash and lip swelling, reporting that these symptoms had been present for 4 weeks before his cardiac arrest and voicing concern that a further cardiac arrest may be imminent. A diagnosis of post-viral or idiopathic autoimmune urticaria and angioedema was made. Given the absence of cardiac symptoms before the development of the rash, it was hypothesised that coronary artery spasm precipitated by histamine release due to his dermatological condition contributed to his myocardial infarction and cardiac arrest. The final diagnosis was therefore cardiac arrest secondary to type II Kounis syndrome, resulting from idiopathic autoimmune or post-viral urticaria and angioedema.

  20. Patients age and results of treatment in discogenic cauda equina syndrome.

    Science.gov (United States)

    Sulla, I

    1994-03-01

    Cauda equina syndrome is a feared complication of lumbar disc disease. Despite of early surgery it frequently leaves persistent effects. Localisation, type, and duration of spinal nerve roots compression are quoted as the most important factors influencing the results of treatment. Statistical evaluation of data acquired by examinations of 58 persons operated on for this disease et the Department of Neurosurgery in Kosice within the period from January 1st, 1982 to December 31st, 1991 has shown that the further important facts are ageing of tissues and impairment of microcirculation. In patients over the age of 45 the recovery of motor and sexual functions, as well as the voluntary control of rectal sphincters, and the working ability were significantly worse. It is suggested thereby that in elderly persons with a proven intervertebral disc disease an early surgical intervention is indicated. (Tab. 7, Ref. 23.)

  1. [Imminent respiratory insufficiency in children resulting from Guillain-Barré syndrome].

    Science.gov (United States)

    de Wit, Marie-Claire Y; Roodbol, Joyce; de Hoog, Matthijs; Catsman-Berrevoets, Coriene E; Jacobs, Bart C

    2011-01-01

    Early recognition of Guillain-Barré syndrome (GBS) is crucial to anticipate and adequately respond to possible respiratory insufficiency. Young children with GBS frequently have non-specific complaints and are more difficult to examine, which may cause a significant delay in diagnosing GBS. We present 3 children, all boys, aged 22 months, 7 years and 4 years respectively, with GBS in whom the diagnosis was missed upon admission, resulting in a failure to appreciate the risk of acute respiratory insufficiency. Two children had to undergo emergency intubation, and one of these cases had a fatal outcome. Young children with GBS often present with pain and refusal to walk, or with difficulty swallowing, and are often initially misdiagnosed with e.g. tonsillitis or coxitis. These nonspecific symptoms can be a first sign of a progressive polyradiculoneuropathy and should prompt a full neurological examination and timely referral to a paediatric neurological centre with Intensive Care facilities.

  2. Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?

    Energy Technology Data Exchange (ETDEWEB)

    Burke, L.W.; Wiley, J.E.; Smith, A.J.W.; Kushnick, T. [East Carolina Univ. School of Medicine, Greenville, NC (United States)] [and others

    1996-04-01

    Angelman syndrome (AS) is associated with a loss of maternal genetic information, which typically occurs as a result of a deletion at 15q11-q13 or paternal uniparental disomy of chromosome 15. We report a patient with AS as a result of an unbalanced cryptic translocation whose breakpoint, at 15q11.2, falls within this region. The proband was diagnosed clinically as having Angelman syndrome, but without a detectable cytogenetic deletion, by using high-resolution G-banding. FISH detected a deletion of D15S11 (IR4-3R), with an intact GABRB3 locus. Subsequent studies of the proband`s mother and sister detected a cryptic reciprocal translocation between chromosomes 14 and 15 with the breakpoint being between SNRPN and D15S10. The proband was found to have inherited an unbalanced form, being monosomic from 15pter through SNRPN and trisomic for 14pter to 14q11.2. DNA methylation studies showed that the proband had a paternal-only DNA methylation pattern at SNRPN, D15S63 (PW71), and ZNF127. The mother and unaffected sister, both having the balanced translocation, demonstrated normal DNA methylation patterns at all three loci. These data suggest that the gene for AS most likely lies proximal to D15S10, in contrast to the previously published position, although a less likely possibility is that the maternally inherited imprinting center acts in trans in the unaffected balanced translocation carrier sister. 27 refs., 6 figs.

  3. Applicability of bosentan in Dutch patients with Eisenmenger syndrome : preliminary results on safety and exercise capacity

    NARCIS (Netherlands)

    Duffels, M.G.J.; Berger, R.M.F.; Bresser, P.; de Bruin-Bon, H.A.C.M.; Hoendermis, E.; Bouma, Berto J.; Mulder, B.J.M.

    2006-01-01

    BACKGROUND: The purpose of this study was to investigate the applicability of bosentan treatment in a broad selection of patients with Eisenmenger syndrome. METHODS: Dutch patients with Eisenmenger syndrome in New York Heart Association functional class III, 9 (41%) male and 13 (59%) female, includi

  4. Employment in Adults with Down Syndrome in the United States: Results from a National Survey

    Science.gov (United States)

    Kumin, Libby; Schoenbrodt, Lisa

    2016-01-01

    Background: There is no current data about employment/unemployment of adults with Down syndrome in the United States. The data that exists includes adults with Down syndrome as part of the larger group of people with disabilities or people with intellectual disability. Method: This study used a survey to investigate paid and volunteer employment,…

  5. Stagnant loop syndrome resulting from small-bowel irradiation injury and intestinal by-pass

    Energy Technology Data Exchange (ETDEWEB)

    Swan, R.W.

    1974-01-01

    Stagnant or blind-loop syndrome includes vitamin B12 malabsorption, steatorrhea, and bacterial overgrowth of the small intestine. A case is presented to demonstrate this syndrome occurring after small-bowel irradiation injury with exaggeration postenterocolic by-pass. Alteration of normal small-bowel flora is basic to development of the stagnant-loop syndrome. Certain strains of bacteria as Bacteriodes and E. coli are capable of producing a malabsorption state. Definitive therapy for this syndrome developing after severe irradiation injury and intestinal by-pass includes antibiotics. Rapid symptomatic relief from diarrhea and improved malabsorption studies usually follow appropriate antibiotic therapy. Recolonization of the loop(s) with the offending bacterial species may produce exacerbation of symptoms. Since antibiotics are effective, recognition of this syndrome is important. Foul diarrheal stools should not be considered a necessary consequence of irradiation injury and intestinal by-pass.

  6. Communication preferences in patients with fibromyalgia syndrome: descriptive results and patient characteristics as predictors

    Directory of Open Access Journals (Sweden)

    Ullrich A

    2014-01-01

    Full Text Available Antje Ullrich, Johannes Hauer, Erik Farin Medical Center, University of Freiburg, Institute for Quality Management and Social Medicine, Freiburg, Germany Background: Communication with patients with fibromyalgia syndrome (FMS is often considered difficult. The primary objective of this explorative study was to describe the communication preferences of FMS patients in comparison with other chronic diseases, and the secondary objective was to identify patient-related predictors of those communication preferences. Methods: A total of 256 FMS patients were asked to fill out the KOPRA [(Kommunikationspraeferenzen, communication preferences of patients with chronic illness] questionnaire at the beginning of their rehabilitation, answering questions about their communication preferences. The KOPRA’s descriptive parameters were calculated and compared with other diagnosis groups. In order to include as many influencing factors as possible, data on patient-related sociodemographic, medical, pain impact and psychologic variables were gathered. A hierarchical regression analysis with four steps was performed to identify patient-related predictors of patients’ communication preferences. Results: FMS patients consider an open and patient-centered communication style to be especially important. Emotionally supportive communication and communication about personal circumstances are important for FMS patients, but the preferences of individual patients vary widely. FMS patients reveal higher values in all the subdimensions of communication preferences compared with patients with low back pain or chronic ischemic heart disease. Only a few variables appear to predict patient communication preferences. The explained variance ranged from 3.1% to 9.7%. Psychologic variables have been identified as predictors in conjunction with all communication preferences. Conclusion: Health care providers who communicate with FMS patients should employ an open and patient

  7. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.

    Science.gov (United States)

    Glassford, Megan R; Rosenfeld, Jill A; Freedman, Alexa A; Zwick, Michael E; Mulle, Jennifer G

    2016-04-01

    3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet-based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e-07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient-reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders.

  8. Cerebral Small Vessel Disease and Motoric Cognitive Risk Syndrome: Results from the Kerala-Einstein Study

    Science.gov (United States)

    Wang, Nan; Allali, Gilles; Kesavadas, Chandrasekharan; Noone, Mohan L.; Pradeep, Vayyattu G.; Blumen, Helena M.; Verghese, Joe

    2017-01-01

    Background The contribution of cerebral small vessel disease to cognitive decline, especially in non-Caucasian populations, is not well established. Objective We examined the relationship between cerebral small vessel disease and motoric cognitive risk syndrome (MCR), a recently described pre-dementia syndrome, in Indian seniors. Methods 139 participants (mean age 66.6 ± 5.4 y, 33.1% female) participating in the Kerala-Einstein study in Southern India were examined in a cross-sectional study. The presence of cerebral small vessel disease (lacunar infarcts and cerebral microbleeds (CMB)) and white matter hyperintensities on MRI was ascertained by raters blinded to clinical information. MCR was defined by the presence of cognitive complaints and slow gait in older adults without dementia or mobility disability. Results Thirty-eight (27.3%) participants met MCR criteria. The overall prevalence of lacunar infarcts and CMB was 49.6% and 9.4%, respectively. Lacunar infarcts in the frontal lobe, but no other brain regions, were associated with MCR even after adjusting for vascular risk factors and presence of white matter hyperintensities (adjusted Odds Ratio (aOR): 4.67, 95% CI: 1.69–12.94). Frontal lacunar infarcts were associated with slow gait (aOR: 3.98, 95% CI: 1.46–10.79) and poor performance on memory test (β: −1.24, 95% CI: −2.42 to −0.05), but not with cognitive complaints or non-memory tests. No association of CMB was found with MCR, individual MCR criterion or cognitive tests. Conclusions Frontal lacunar infarcts are associated with MCR in Indian seniors, perhaps, by contributing to slow gait and poor memory function. PMID:26757037

  9. Ethnic Differences in the Prevalence of Metabolic Syndrome: Results from a Multi-Ethnic Population-Based Survey in Malaysia

    Science.gov (United States)

    Guallar, Eliseo; Bulgiba, Awang; Mohamed, Rosmawati; Rahmat, Ramlee; Arif, Mohamad Taha; Rampal, Lekhraj

    2012-01-01

    Introduction The prevalence of metabolic syndrome is increasing disproportionately among the different ethnicities in Asia compared to the rest of the world. This study aims to determine the differences in the prevalence of metabolic syndrome across ethnicities in Malaysia, a multi-ethnic country. Methods In 2004, we conducted a national cross-sectional population-based study using a stratified two-stage cluster sampling design (N = 17,211). Metabolic syndrome was defined according to the International Diabetes Federation/National Heart, Lung and Blood Institute/American Heart Association (IDF/NHLBI/AHA-2009) criteria. Multivariate models were used to study the independent association between ethnicity and the prevalence of the metabolic syndrome. Results The overall mean age was 36.9 years, and 50.0% participants were female. The ethnic distribution was 57.0% Malay, 28.5% Chinese, 8.9% Indian and 5.0% Indigenous Sarawakians. The overall prevalence of the metabolic syndrome was 27.5%, with a prevalence of central obesity, raised triglycerides, low high density lipoprotein cholesterol, raised blood pressure and raised fasting glucose of 36.9%, 29.3%, 37.2%, 38.0% and 29.1%, respectively. Among those P-value for the interaction of ethnicity by age was 0.001. Conclusions The overall prevalence of metabolic syndrome in Malaysia was high, with marked differences across ethnicities. Ethnic Chinese had the lowest prevalence of metabolic syndrome, while ethnic Indians had the highest. Indigenous Sarawakians showed a marked increase in metabolic syndrome at young ages. PMID:23029497

  10. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

    Science.gov (United States)

    White, Janson J.; Mazzeu, Juliana F.; Hoischen, Alexander; Bayram, Yavuz; Withers, Marjorie; Gezdirici, Alper; Kimonis, Virginia; Steehouwer, Marloes; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; van Bon, Bregje W.M.; Sutton, V. Reid; Lupski, James R.; Brunner, Han G.; Carvalho, Claudia M.B.

    2016-01-01

    Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a −1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a −1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations. PMID:26924530

  11. Endovascular Treatment of Malignant Superior Vena Cava Syndrome: Results and Predictive Factors of Clinical Efficacy

    Energy Technology Data Exchange (ETDEWEB)

    Fagedet, Dorothee, E-mail: DFagedet@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de medecine interne, Pole Pluridisciplinaire de Medecine (France); Thony, Frederic, E-mail: FThony@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Timsit, Jean-Francois, E-mail: JFTimsit@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de reanimation, Pole Medecine Aiguee Communautaire (France); Rodiere, Mathieu, E-mail: MRodiere@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Monnin-Bares, Valerie, E-mail: v-monnin@chu-montpellier.fr [CHRU Arnaud de Villeneuve, Imagerie Medicale Thoracique Cardiovasculaire (France); Ferretti, Gilbert R., E-mail: GFerretti@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Vesin, Aurelien; Moro-Sibilot, Denis, E-mail: DMoro.pneumo@chu-grenoble.fr [University Grenoble 1 e Albert Bonniot Institute, Inserm U823 (France)

    2013-02-15

    To demonstrate the effectiveness of endovascular treatment (EVT) with self-expandable bare stents for malignant superior vena cava syndrome (SVCS) and to analyze predictive factors of EVT efficacy. Retrospective review of the 164 patients with malignant SVCS treated with EVT in our hospital from August 1992 to December 2007 and followed until February 2009. Endovascular treatment includes angioplasty before and after stent placement. We used self-expandable bare stents. We studied results of this treatment and looked for predictive factors of clinical efficacy, recurrence, and complications by statistical analysis. Endovascular treatment was clinically successful in 95% of cases, with an acceptable rate of early mortality (2.4%). Thrombosis of the superior vena cava was the only independent factor for EVT failure. The use of stents over 16 mm in diameter was a predictive factor for complications (P = 0.008). Twenty-one complications (12.8%) occurred during the follow-up period. Relapse occurred in 36 patients (21.9%), with effective restenting in 75% of cases. Recurrence of SVCS was significantly increased in cases of occlusion (P = 0.01), initial associated thrombosis (P = 0.006), or use of steel stents (P = 0.004). Long-term anticoagulant therapy did not influence the risk of recurrence or complications. In malignancy, EVT with self-expandable bare stents is an effective SVCS therapy. These results prompt us to propose treatment with stents earlier in the clinical course of patients with SVCS and to avoid dilatation greater than 16 mm.

  12. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Olson, S.; Gunter, K. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1996-05-01

    Prader-Willi syndrome (PWS) is most often the result of a deletion of bands q11.2-q13 of the paternally derived chromosome 15, but it also occurs either because of maternal uniparental disomy (UPD) of this region or, rarely, from a methylation imprinting defect. A significant number of cases are due to structural rearrangements of the pericentromeric region of chromosome 15. We report two cases of PWS with UPD in which there was a meiosis I nondisjunction error involving an altered chromosome 15 produced by both a translocation event between the heteromorphic satellite regions of chromosomes 14 and 15 and recombination. In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material. Chromosome heteromorphism analysis showed that each patient had maternal heterodisomy of the chromosome 15 short arm, whereas PCR of microsatellites demonstrated allele-specific maternal isodisomy and heterodisomy of the long arm. SNRPN gene methylation analysis revealed only a maternal imprint in both patients. We suggest that the chromosome structural rearrangements, combined with recombination in these patients, disrupted normal segregation of an imprinted region, resulting in uniparental disomy and PWS. 30 refs., 6 figs., 1 tab.

  13. Our results of mini open approach in patients with carpal tunnel syndrome

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    Azad Yıldırım

    2015-12-01

    Full Text Available Objective: In this study, we aimed to evaluate the results of patients underwent surgical release with mini open surgical method due to Carpal tunnel syndrome (CTS and the surgical technique. Methods: 50 wrists of the 42 patients that we could reach after they were applied mini open surgical method between 2009- 2013 were analyzed retrospectively. After surgery, patients were followed for an average 47.4 months. CTS was detected in 26 of the patients in right hand, in 10 of the patients in left hand and in seven of them bilaterally. In 27 Preoperative patients advanced in 21 intermediate and in 2 mild Electromyography (EMG findings compliant with CTS were found. Results: We did not apply a second operation to any of our patients. None of the patients showed any post operative sensitivity on scar tissue and there was no neurovascular damage in any patients during the surgery. The patients returned to their daily activities average on the 10th day after the surgery [range 7-15 days]. In their follow up EMG was not done on a routine basis to the patients. Patients were followed clinically. Conclusion: The advantages of the surgery process we conducted with over pillar mini incision compared to other techniques that there is less pillar region pain and less scar tenderness, shorter return to work and the technique is efficient, cheap and easy to apply.

  14. Clinical syndrome in HIV/AIDS resulting in hospitalization based on the CD4 count

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    Mahmood Mahmood

    2009-01-01

    Full Text Available (Received 3 November, 2009 ; Accepted 10 March, 2010AbstractBackground and purpose: The CD4 lymphocyte count is the strongest index indicating the severity of immunodeficiency, prediction of incidence, diagnosis, and making a decision to start anti retroviral treatment and follow up of therapeutic response. This study was conducted to establish the clinical syndrome resulting in admission of patients with HIV infection based on the CD4 count.Materials and methods: This cross-sectional descriptive study was performed on 71 HIV patients admitted at least for onece to Imam Khomeini Hospital, Tehran during 2008 and 2009. HIV infection was confirmed by positive ELISA and Western blot. The obtained data were analyzed using SPSS software, version 16.Results: From a total of 71 patients, 8.5% were female and 91.5% were male. The mean age of the subjects was 35 ± 8.1 years. 74.6% were addicted and 38% had a prison history. The average CD4 count was 202.9 ± 20.09 /ML. 21.1% of the patients received anti-retroviral medication. 49.3% of HIV patients had hepatitis C and 18.6% had hepatitis B simultaneously. Patient with PCP, toxoplasma and TB had the least CD4 count, with an average of 75.85, 94.66 and 143.95 /ML respectively. Patients with empyema, esophagititis and abscess of femur had the highest CD4 average count of 698, 536 and 349.5 ML, respectively. There was a significant correlation between pneumonia and CD4<200/ML (P=0.001 and also, between prison history and TB (P<0.001, and between TB and CD4<200/ML (P=0.012.Conclusion: The prevalence of Pneumocystic pneumonia, Toxoplasmosis and TB syndrome may be higher in patients with CD4<200/ML and the incidence of pulmonary TB were greater in patients eith prison history. Key words: HIV, AIDS, CD4 lymphocyte count, pneumonia, tuberclosisJ Mazand Univ Med Sci 2009; 19(74: 70-77 (Persian.

  15. Results after simple decompression of the ulnar nerve in cubital tunnel syndrome.

    Science.gov (United States)

    Harder, Kristina; Lukschu, Sandra; Dunda, Sebastian E; Krapohl, Björn Dirk

    2015-01-01

    Cubital tunnel syndrome represents the second most common compression neuropathy of the upper limb. For more than four decades there has been a controversy about the best surgical treatment modality for cubital tunnel syndrome. In this study the results of 28 patients with simple ulnar nerve decompression are presented. Data analyses refers to clinical examination, personal interview, DASH-questionnaire, and electrophysiological measurements, which were assessed pre- and postoperatively. 28 patients (15 females, 13 males) were included in this study. The average age at time of surgery was 47.78 years (31.68-73.10 years). The period from onset of symptoms to surgery ranged from 2 to 24 months (mean 6 months). The mean follow-up was 2.11 years (0.91-4.16 years). Postoperatively there was a significant decrease in DASH score from 52.6 points to 13.3 points (pnerve conduction velocity increased from 36.0 m/s to 44.4 m/s (p=0.008) and the motor nerve action potential reached 5,470 mV compared to 3,665 mV preoperatively (p=0.018). A significant increase of grip strength from 59% (in comparison to the healthy hand) to 80% was observed (p=0.002). Pain was indicated by means of a visual analog scale from 0 to 100. Preoperatively the median level of pain was 29 and postoperatively it was 0 (p=0.001). The decrease of the two-point-discrimination of the three ulnar finger nerves was also highly significant (p<0.001) from 11.3 mm to 5.0 mm. Significant postoperative improvement was also observed in the clinical examination concerning muscle atrophy (p=0.002), clawing (p=0.008), paresthesia (p=0.004), the sign of Froment (p=0.004), the sign of Hoffmann-Tinel (p=0.021), and clumsiness (p=0.002). Overall nearly 90% of all patients were satisfied with the result of the operation. In 96.4% of all cases, surgery improved the symptoms and in one patient (3.6%) the success was noted as "poor" because the symptoms remained unchanged. In 35.7% the success was graded as "moderate", in 10

  16. Results after simple decompression of the ulnar nerve in cubital tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Harder, Kristina

    2015-12-01

    Full Text Available Cubital tunnel syndrome represents the second most common compression neuropathy of the upper limb. For more than four decades there has been a controversy about the best surgical treatment modality for cubital tunnel syndrome. In this study the results of 28 patients with simple ulnar nerve decompression are presented. Data analyses refers to clinical examination, personal interview, DASH-questionnaire, and electrophysiological measurements, which were assessed pre- and postoperatively.28 patients (15 females, 13 males were included in this study. The average age at time of surgery was 47.78 years (31.68–73.10 years. The period from onset of symptoms to surgery ranged from 2 to (mean 6 months. The mean follow-up was 2.11 years (0.91–Postoperatively there was a significant decrease in DASH score from 52.6 points to 13.3 points (p<0.001. Also the electrophysiological findings improved significantly: motor nerve conduction velocity increased from 36.0 m/s to 44.4 m/s (p=0.008 and the motor nerve action potential reached 5,470 mV compared to 3,665 mV preoperatively (p=0.018. A significant increase of grip strength from 59% (in comparison to the healthy hand to 80% was observed (p=0.002. Pain was indicated by means of a visual analog scale from 0 to 100. Preoperatively the median level of pain was 29 and postoperatively it was 0 (p=0.001. The decrease of the two-point-discrimination of the three ulnar finger nerves was also highly significant (p<0.001 from 11.3 mm to 5.0 mm. Significant postoperative improvement was also observed in the clinical examination concerning muscle atrophy (p=0.002, clawing (p=0.008, paresthesia (p=0.004, the sign of Froment (p=0.004, the sign of Hoffmann-Tinel (p=0.021, and clumsiness (p=0.002.Overall nearly 90% of all patients were satisfied with the result of the operation. In 96.4% of all cases, surgery improved the symptoms and in one patient (3.6% the success was noted as “poor” because the symptoms remained

  17. Death resulting from overzealous total parenteral nutrition: the refeeding syndrome revisited.

    Science.gov (United States)

    Miller, Sarah J

    2008-01-01

    Commentary is provided on the pivotal paper by Weinsier and Krumdieck from 1981 describing 2 patients who developed profound and fatal refeeding syndrome following initiation of aggressive total parenteral nutrition. This classic description was among the first to describe the overwhelming cardiovascular and pulmonary manifestations that can accompany parenteral refeeding with carbohydrate in chronically malnourished patients. The syndrome has also been described with oral and enteral nutrition. One of the hallmarks of the syndrome is hypophosphatemia. Since 1981, dosing schemes for addressing hypophosphatemia have been refined. Other manifestations of the syndrome include other electrolyte abnormalities such as hypokalemia and hypomagnesemia, hyperglycemia, fluid and sodium retention, and neurologic and hematologic complications. Case reports of refeeding syndrome continue to be published, particularly in the anorexia nervosa population. Stressed, critically ill patients may be at risk of refeeding following short periods of fasting; hypophosphatemia is commonly encountered in this situation. It behooves the current nutrition support practitioner to keep in mind the types of patients at risk of refeeding syndrome and to approach refeeding of such patients with caution and careful monitoring.

  18. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

    Directory of Open Access Journals (Sweden)

    Alexandra Kolontai de Sousa Oliveira1

    2013-04-01

    Full Text Available Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC, and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Anchored Hearing Aid (BAHA® allow direct stimulation of the cochlea and are thus superior to conventional hearing aids in cases of severe conductive hearing loss. Objective: To present 2 cases of patients with Treacher-Collins syndrome who underwent implantation of BAHA®. Cases Reports: The first patient was a 52-year-old woman diagnosed with Treacher-Collins syndrome who presented with severe bilateral mixed hearing loss and a history of unsuccessful previous use of a bone contact conduction device. The BAHA® implantation was uneventful, and the post-operative results were good. The second patient was a 14-year-old girl who was also diagnosed with Treacher-Collins Syndrome with bilateral moderate conductive hearing loss by audiometry. The use of a bone vibrator contact device did not improve her hearing; however, implantation of a BAHA® resulted in a decreased gap postoperatively. Final comments: BAHA® hearing devices provide adequate rehabilitation and consequent improvement of the quality of life in patients with Treacher-Collins syndrome.

  19. Benign painful elbow syndrome. First results of a single center prospective randomized radiotherapy dose optimization trial

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen (Germany). Dept. of Radiation Oncology

    2012-10-15

    Background and purpose: The goal of the present study was to evaluate the efficacy of two different dose-fractionation schedules for radiotherapy (RT) of patients with painful elbow syndrome. Patients and methods: Between February 2006 and February 2010, 199 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received RT in orthovoltage technique. One RT course consisted of 6 single fractions/3 weeks. In case of insufficient remission of pain after 6 weeks a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after RT by a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 80% direct after and 91% 6 weeks after RT. The mean VAS values before, after and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 59.6 {+-} 20.2 and 55.7 {+-} 18.0 (p = 0.463), 32.1 {+-} 24.5 and 34.4 {+-} 22.5 (p = 0.256), and 27.0 {+-} 27.7 and 23.5 {+-} 21.6 (p = 0.818). The mean CPS before, after, and 6 weeks after treatment was 8.7 {+-} 2.9 and 8.1 {+-} 3.1 (p = 0.207), 4.5 {+-} 3.2 and 5.0 {+-} 3.4 (p = 0.507), 3.9 {+-} 3.6 and 2.8 {+-} 2.8 (p = 0.186), respectively. No statistically significant differences between the two single dose trial arms for early (p = 0.103) and delayed response (p = 0.246) were found. Conclusion: RT is an effective treatment option for the management of benign painful elbow syndrome. For radiation protection reasons the dose for a RT series is recommended not to exceed 3.0 Gy. (orig.)

  20. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

    Science.gov (United States)

    Berry-Kravis, Elizabeth; Des Portes, Vincent; Hagerman, Randi; Jacquemont, Sébastien; Charles, Perrine; Visootsak, Jeannie; Brinkman, Marc; Rerat, Karin; Koumaras, Barbara; Zhu, Liansheng; Barth, Gottfried Maria; Jaecklin, Thomas; Apostol, George; von Raison, Florian

    2016-01-13

    Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene. Work in animal models has described altered synaptic plasticity, a result of the up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling, as a putative downstream effect. Post hoc analysis of a randomized, placebo-controlled, crossover phase 2 trial suggested that the selective mGluR5 antagonist mavoglurant improved behavioral symptoms in FXS patients with completely methylated FMR1 genes. We present the results of two phase 2b, multicenter, randomized, double-blind, placebo-controlled, parallel-group studies of mavoglurant in FXS, designed to confirm this result in adults (n = 175, aged 18 to 45 years) and adolescents (n = 139, aged 12 to 17 years). In both trials, participants were stratified by methylation status and randomized to receive mavoglurant (25, 50, or 100 mg twice daily) or placebo over 12 weeks. Neither of the studies achieved the primary efficacy end point of improvement on behavioral symptoms measured by the Aberrant Behavior Checklist-Community Edition using the FXS-specific algorithm (ABC-C(FX)) after 12 weeks of treatment with mavoglurant. The safety and tolerability profile of mavoglurant was as previously described, with few adverse events. Therefore, under the conditions of our study, we could not confirm the mGluR theory of FXS nor the ability of the methylation state of the FMR1 promoter to predict mavoglurant efficacy. Preclinical results suggest that future clinical trials might profitably explore initiating treatment in a younger population with longer treatment duration and longer placebo run-ins and identifying new markers to better assess behavioral and cognitive benefits.

  1. Ethnic differences in the prevalence of metabolic syndrome: results from a multi-ethnic population-based survey in Malaysia.

    Directory of Open Access Journals (Sweden)

    Sanjay Rampal

    Full Text Available INTRODUCTION: The prevalence of metabolic syndrome is increasing disproportionately among the different ethnicities in Asia compared to the rest of the world. This study aims to determine the differences in the prevalence of metabolic syndrome across ethnicities in Malaysia, a multi-ethnic country. METHODS: In 2004, we conducted a national cross-sectional population-based study using a stratified two-stage cluster sampling design (N = 17,211. Metabolic syndrome was defined according to the International Diabetes Federation/National Heart, Lung and Blood Institute/American Heart Association (IDF/NHLBI/AHA-2009 criteria. Multivariate models were used to study the independent association between ethnicity and the prevalence of the metabolic syndrome. RESULTS: The overall mean age was 36.9 years, and 50.0% participants were female. The ethnic distribution was 57.0% Malay, 28.5% Chinese, 8.9% Indian and 5.0% Indigenous Sarawakians. The overall prevalence of the metabolic syndrome was 27.5%, with a prevalence of central obesity, raised triglycerides, low high density lipoprotein cholesterol, raised blood pressure and raised fasting glucose of 36.9%, 29.3%, 37.2%, 38.0% and 29.1%, respectively. Among those <40 years, the adjusted prevalence ratios for metabolic syndrome for ethnic Chinese, Indians, and Indigenous Sarawakians compared to ethnic Malay were 0.81 (95% CI 0.67 to 0.96, 1.42 (95% CI 1.19 to 1.69 and 1.37 (95% CI 1.08 to 1.73, respectively. Among those aged ≥40 years, the corresponding prevalence ratios were 0.86 (95% CI 0.79 to 0.92, 1.25 (95% CI 1.15 to 1.36, and 0.94 (95% CI 0.80, 1.11. The P-value for the interaction of ethnicity by age was 0.001. CONCLUSIONS: The overall prevalence of metabolic syndrome in Malaysia was high, with marked differences across ethnicities. Ethnic Chinese had the lowest prevalence of metabolic syndrome, while ethnic Indians had the highest. Indigenous Sarawakians showed a marked increase in metabolic

  2. Results of Surgery in Patients with type 1 Duane’s Retraction Syndrome

    Directory of Open Access Journals (Sweden)

    Seren Pehlivanoğlu

    2011-06-01

    Full Text Available Purpose: To assess the results of surgery techniques used in Duane’s retraction syndrome (DRS type 1. Material and Method: 194 DRS cases followed in the department of strabismus were retrospectively investigated. We assessed 58 cases operated for esotropic DRS type 1 in terms of pre- and post-operative deviations in primary position, abnormal head posture (AHP, abduction deficiency, globe retraction, and up-down shoot. The cases were divided into 3 groups according to the surgical technique applied. The mean follow-up period was 22.4±4.6 (1-13 years months. Results: The cases in group 1 had undergone uni- or bilateral medial rectus (MR recession, and the postoperative 1stmonth improvement rates for distance deviation, near deviation and AHP were 68.6%, 73.9% and 50%, respectively. These rates were 69.3%, 64.7% and 57.1%, respectively in group 2 which consisted of eyes that had undergone vertical rectus muscle transposition (VRT surgery. In group 3, in which we had performed Y-split (with or without LR/MR recession surgery, the improvement rates for distance and near deviation were 63.6% and 63.9%, and 50% was determined for AHP. The improvement in globe retraction was 60% in group 1 and 66.6% in group 3. Discussion: Medial rectus muscle recession was more effective for correction of deviation and AHP in cases of DRS type 1. VRT was found to be more effective surgical option in abduction deficiency. Y-split surgery has an important place in eliminating globe retraction and up/down shoot. (Turk J Ophthalmol 2011; 41: 156-63

  3. Long-term results of tracheostomy for severe obstructive sleep apnea syndrome.

    Science.gov (United States)

    Haapaniemi, J J; Laurikainen, E A; Halme, P; Antila, J

    2001-01-01

    Severe obstructive sleep apnea (OSAS) is most often accompanied by metabolic syndrome, obesity, diabetes and coronary disease. In its most severe form, it is a life-threatening condition, requiring active and immediate help. Nasal continuous positive airway pressure (CPAP) is the most efficient nonsurgical treatment for patients with OSAS. However, for anatomical, disease-related and subjective reasons, many patients cannot accept this treatment. A permanent tracheostomy may be one alternative in such patients who, in addition, often suffer from extreme obesity and severe heart disease. In this paper, we describe the long-term follow-up results of 7 patients suffering from OSAS and treated with permanent tracheostomy. All the patients (5 men, 2 women) were diagnosed using the static charge sensitive bed method and night-time oximetry for sleep analysis. The mean body mass index (BMI) of the patients ranged from 34 to 60 and the age from 41 to 64 years. All the patients had severe OSAS and long periods of low oxygen saturation (SaO2) levels. Six patients had a CPAP trial before tracheostomy. Only 2 patients tolerated the trial but, despite the continuous use of CPAP, they were nonresponders. Permanent tracheostomy was done according to normal routine in each patient. After primary healing of 2 days, they used silver cannulae, which also allowed them to speak. The patients were evaluated every year after the tracheostomy. After some practical difficulties including proper maintenance of the cannula, all the patients quickly learned the correct management. In postoperative sleep studies, nadir SaO2 levels had improved significantly, obstructive apneas had disappeared and the subjective quality of life had improved. No marked changes in BMI were found.

  4. Severity of acute respiratory distress syndrome resulting from tuberculosis correlates with bronchoalveolar lavage CXCL-8 expression

    NARCIS (Netherlands)

    Adcock, I.M.; Hashemian, S.M.R.; Mortaz, E.; Masjedi, M.R.; Folkerts, G.

    2015-01-01

    Tuberculosis (TB) has previously been linked to acute respiratory distress syndrome (ARDS). Here this study investigates the link between inflammation and TB in ARDS by measuring inflammatory cytokine and chemokine levels in bronchoalveolar lavage (BAL) from 90 patients with TB or ARDS alone and in

  5. Pasireotide in dumping syndrome-results from a phase 2, international, multicentre study

    NARCIS (Netherlands)

    Tack, J.; Arts, J.; Aberle, J.; LaRocque, J.C.; Passos, V.Q.; O'Connell, P.; Van Beek, A.P.

    2015-01-01

    Introduction: Dumping syndrome is a prevalent complication of gastric bypass surgery, characterised by early (cardiovascular and gastrointestinal response, along with rise in haematocrit [Ht] and pulse rate [PR]) and late (hypoglycaemia due to excess insulin) postprandial symptoms. Only a subset of

  6. Performing Movement Sequences with Knowledge of Results under Different Visual Conditions in Adults with Down Syndrome.

    Science.gov (United States)

    Virji-Babul, Naznin; Lloyd, Jennifer E. V.; Van Gyn, Geraldine

    2003-01-01

    This study examined the learning of movement sequences in 10 adults with Down syndrome (DS) under two visual information conditions. Although DS individuals were significantly slower than neurologically typical participants, mean reaction and movement times were not affected by the visual information condition in either group. DS individuals…

  7. Clinical Results of Carotid Denervation by Adventitial Stripping in Carotid Sinus Syndrome

    NARCIS (Netherlands)

    Toorop, R. J.; Scheltinga, M. R.; Huige, M. C.; Moll, F. L.

    2010-01-01

    Aims: Older patients with spells of syncope may suffer from a carotid sinus syndrome (CSS). Patients with invalidating CSS routinely receive pacemaker treatment. This study evaluated the safety and early outcome of a surgical technique termed carotid denervation by adventitial stripping for CSS trea

  8. [Does the site of compression of spinal roots affect the therapeutic results in discogenic cauda equina syndrome?].

    Science.gov (United States)

    Sulla, I

    1994-01-01

    Experimental investigations and differences in the anatomical structure of roots of the cauda equina indicate that the most serious sequelae should be produced in the short portion beyond the spine. The objective of the present work was to verify this assumption. The authors examined 70 subjects (24 women and 46 men) operated on account of discogenic syndrome of the cauda equina in 1982 -1992; statistical analysis of the results by means of the X2-test revealed that the condition had in the majority of patients permanent sequelae. Except for restored sensitivity it was not possible to prove a relationship between the site of the compression and the therapeutic results. Key words: cauda equina syndrome, site of compression.

  9. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

    NARCIS (Netherlands)

    Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

    2015-01-01

    Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

  10. Sonography-guided gastrografin enema for meconium plug syndrome in premature newborns: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Kim, Ki Soo; Kim, Rhan Ellen Ai; Pi, Soo Young; Yoon, Chong Hyun [Asan Medical Center, Seoul (Korea, Republic of)

    2004-04-01

    To evaluate the usefulness of sonography-guided Gastrografin enema for the diagnosis and treatment of meconium plug syndrome in premature newborns in a neonatal intensive care unit (NICU). Fifteen premature newborns underwent 23 sonography-guided Gastrografin enemas on the 8th day of life on average (range: 3 days-21 days). The gestational age and birth weight (mean{+-}standard deviation) of the patients were 29{+-}2 weeks and 999{+-}148 g, respectively. The diagnosis of meconium plug syndrome was based on relevant clinical and radiological findings. Diluted Gastrografin (1:3, 17-45 ml) was administered through a rectal tube under the guidance of sonography until it reached to the cecum. Thereafter, immediate post-procedure and delayed portable abdominal radiographs were taken. All the procedures were done within the NICU. We reviewed the dates of meconium evacuation and the first feeding after the last enema from the clinical data. Radiologically, the timing of the radiographic improvement after the last enema was checked. In cases of distended distal ileum with meconium on preenema sonography, follow-up sonography was performed to determine the interval change after gastrografin enema. None of the sonography-guided Gastrografin enemas performed within the NICU caused procedure-related complications. Meconium was evacuated within one day in all patients. In 14 patients, on average, feeding was started on the 7th day and radiographic improvement was observed on the 3rd day. Four of the five patients showing a distended distal ileum with meconium revealed a decrease in ileal distension on follow-up sonography. On the other hand, the other patient, who did not show such a decrease on follow-up sonography, was found to have ileal stenosis during subsequent surgery. Sonography-guided Gastrografin enema is a safe and effective bedside procedure, when performed in the NICU for the diagnosis and treatment of meconium plug syndrome.

  11. Excellent long-term results with iliac stenting in local anesthesia for post-thrombotic syndrome

    DEFF Research Database (Denmark)

    Klitfod, Lotte; Just, Sven; Foegh, Pia

    2015-01-01

    BACKGROUND: Only 20% of iliac veins will recanalize on anticoagulation (AC) treatment alone and may, therefore, develop venous obstruction after iliofemoral deep venous thrombosis (DVT). A considerable number of these patients will suffer from post-thrombotic syndrome (PTS) leading to impaired qu...... stent was 89% (17/19) and 16 patients (84 %) had almost or total symptom relief at follow-up. CONCLUSION: Endovascular stenting of iliac obstruction in local anesthesia is minimally invasive and shows excellent long-term outcomes for patients suffering from PTS....

  12. A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

    Institute of Scientific and Technical Information of China (English)

    Fabrice Airaud; Sébastien Küry; Isabelle Valo; Ingrid Maury; Dominique Bonneau; Olivier Ingster; Stéphane Bezieau

    2012-01-01

    We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers:a sigmoid colon cancer at the age of 39 years,and a right colon cancer at the age of 50 years.The mutation identified in his blood and buccal cells,c.1771delG,p.Asp591Ilefs*25,appears to be a de novo event,as it was not transmitted by either of his parents.This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far.Furthermore,the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.

  13. [Spinal root compression and results of treatment of discogenic cauda equina syndrome].

    Science.gov (United States)

    Sulla, I

    1998-11-01

    Several experimental and clinical studies suggest an important role of the quality and quantity of the material compressing the lumbosacral spinal cord radices in the development of cauda equina syndrome. These facts inspired the author to find out if the repair of neurological functions depends also on these factors. Clinical investigations of 81 persons (30 women and 51 men) were performed at minimum time of two years after the operation of the cauda equina discogenic syndrome. Mathematical analysis of the acquired data (chi-quadrate) revealed that so-called soft compression of neural structures (intervertebral disc hernia, sequester liber) negatively influenced the restoration of lower extremities motor functions (p = 0.01), sexual functions in men (p = 0.05) and radicular pain persistence (p = 0.01). On the other hand, the so-called hard compression (spondylosis deformans and protrusion of intervertebral disc) negatively influenced the restoration of sensitive innervation (p = 0.01) and voluntary control of urinary bladder emptying (p = 0.01). (Tab. 7, Ref. 24.)

  14. Assessment of a syndromic surveillance system based on morbidity data: results from the Oscour network during a heat wave.

    Directory of Open Access Journals (Sweden)

    Loïc Josseran

    Full Text Available BACKGROUND: Syndromic surveillance systems have been developed in recent years and are now increasingly used by stakeholders to quickly answer questions and make important decisions. It is therefore essential to evaluate the quality and utility of such systems. This study was designed to assess a syndromic surveillance system based on emergency departments' (ED morbidity rates related to the health effects of heat waves. This study uses data collected during the 2006 heat wave in France. METHODS: Data recorded from 15 EDs in the Ile-de-France (Paris and surrounding area from June to August, 2006, were transmitted daily via the Internet to the French Institute for Public Health Surveillance. Items collected included diagnosis (ICD10, outcome, and age. Several aspects of the system have been evaluated (data quality, cost, flexibility, stability, and performance. Periods of heat wave are considered the most suitable time to evaluate the system. RESULTS: Data quality did not vary significantly during the period. Age, gender and outcome were completed in a comprehensive manner. Diagnoses were missing or uninformative for 37.5% of patients. Stability was recorded as being 99.49% for the period overall. The average cost per day over the study period was estimated to be euro287. Diagnoses of hyperthermia, malaise, dehydration, hyponatremia were correlated with increased temperatures. Malaise was most sensitive in younger and elderly adults but also the less specific. However, overall syndrome groups were more sensitive with comparable specificity than individual diagnoses. CONCLUSION: This system satisfactorily detected the health impact of hot days (observed values were higher than expected on more than 90% of days on which a heat alert was issued. Our findings should reassure stakeholders about the reliability of health impact assessments during or following such an event. These evaluations are essential to establish the validity of the results of

  15. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

    Science.gov (United States)

    Milewicz, D M; Grossfield, J; Cao, S N; Kielty, C; Covitz, W; Jewett, T

    1995-01-01

    Dermal fibroblasts from a 13-yr-old boy with isolated skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Only one half of the secreted profibrillin was proteolytically processed to fibrillin outside the cell and deposited into the extracellular matrix. Electron microscopic examination of rotary shadowed microfibrils made by the proband's fibroblasts were indistinguishable from control cells. Sequencing of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 8176 resulting in the substitution of a tryptophan for an arginine (R2726W), at a site immediately adjacent to a consensus sequence recognized by a cellular protease. Six other individuals in the proband's family had the FBN1 mutation that segregated with tall stature. None of the affected individuals have cardiac or ocular manifestations of the Marfan syndrome. This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population. The cellular effect of the mutation may be equivalent to a "null" FBN1 allele and may define the phenotype associated with FBN1 "null" alleles. Images PMID:7738200

  16. Spontaneous Pelvic Rupture as a Result of Renal Colic in a Patient with Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Sergey Reva

    2013-01-01

    Full Text Available We present the case of a young man with Klinefelter syndrome, who was admitted to our clinic with renal colic. Shortly after admittance, spontaneous decrease in pain has occurred. Ultrasound and intravenous contrast computed tomography were performed, which showed the evidence of urine extravasation at the level of left renal pelvis and a 4 mm stone in the lower third of the left ureter. The management with a double-J ureteric stent for three weeks was successful. Then, the stent was removed and computed tomography confirmed the absence of urine extravasation. We also analyze the literature related to this case and discuss the main mechanisms of collecting system rupture.

  17. Severe global amnesia presenting as Wernicke-Korsakoff syndrome but resulting from atypical lesions.

    Science.gov (United States)

    Welch, L W; Nimmerrichter, A; Kessler, R; King, D; Hoehn, R; Margolin, R; Martin, P R

    1996-03-01

    A female alcoholic presented with Wernicke's encephalopathy subsequent to administration of diazepam and glucose (without thiamine) for treatment of withdrawal seizures. Nystagmus and cerebellar ataxia quickly resolved when administered thiamine, although severe global amnesia consistent with Korsakoff's syndrome persisted. Magnetic resonance imaging (MRI) revealed infarction of the right temporal lobe with hippocampal atrophy, but no lesions of thalamus or atrophy of mammillary bodies. Positron emission tomography (PET) confirmed decreased cerebral metabolic rates for glucose (CMRglu) in the right temporal lobe corresponding to MRI findings, but also significant metabolic asymmetry of dorsal thalamus, i.e. reduced CMRglu in left versus right. This patient is unique in that neuroradiological findings revealed intact mammillary bodies and suggest asymmetrical dysfunctions (structural right temporal and functional left diencephalic) to produce her profound amnesia.

  18. The Erlangen Dose Optimization Trial for radiotherapy of benign painful shoulder syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-04-15

    To evaluate the long-term efficacy of pain reduction by two dose-fractionation schedules for radiotherapy of painful shoulder syndrome. Between February 2006 and February 2010, 312 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 11-57). The overall early, delayed and long-term response rates for all patients were 83, 85 and 82%, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 56.8±23.7 and 53.2±21.8 (p=0.16); 38.2±36.1 and 34.0±24.5 (p=0.19); 33.0±27.2 and 23.7±22.7 (p=0.04) and 27.9±25.8 and 32.1±26.9 (p=0.25), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 9.7±3.0 and 9.5±2.7 (p=0.31); 6.1±3.6 and 5.4±3.6 (p=0.10); 5.3±3.7 and 4.1±3.7 (p=0.05) and 4.0±3.9 and 5.3±4.4 (p=0.05), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p=0.28). Radiotherapy is an effective treatment for the management of benign painful shoulder syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.)

  19. The obesity paradox in patients with acute coronary syndrome: results from the Gulf RACE-2 study.

    Science.gov (United States)

    Shehab, Abdulla; Al-Dabbagh, Bayan; AlHabib, Khalid; Alsheikh-Ali, Alawi; Almahmeed, Wael; Sulaiman, Kadhim; Al-Motarreb, Ahmed; Suwaidi, Jassim Al; Hersi, Ahmad; AlFaleh, Hussam; Asaad, Nidal; AlSaif, Shukri; Amin, Haitham; Alanbaei, Muath; Nagelkerke, Nicolaas; Abdulle, Abdishakur

    2014-08-01

    We investigated the association between in-hospital and peri-hospital mortality and body mass index (BMI)/waist circumference (WC) in a prospective acute coronary syndrome (ACS) registry in the Arabian Gulf. No significant associations with in-hospital mortality were found. Normal BMI had highest peri-hospital mortality, notably those with high WC. In logistic regression of mortality on obesity measures and potential confounders, the effects of obesity measures were no longer significant. In-hospital death increased by 5% with age and decreased by 42% in males. Mortality increased 3.7-fold with ST-elevation myocardial infarction (STEMI) and 3.0-fold with heart failure (HF) but decreased by 33% with dyslipidemia. Peri-hospital death increased by 4% with age and decreased by 30% in males. Mortality increased 2.8-fold with STEMI and 2.4-fold with HF. In- and peri-hospital mortality in ACS is significantly associated with age, gender, STEMI, HF, and dyslipidemia but not obesity measures.

  20. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

    Science.gov (United States)

    Sheridan, M B; Bytyci Telegrafi, A; Stinnett, V; Umeh, C C; Mari, Z; Dawson, T M; Bodurtha, J; Batista, D A S

    2013-10-01

    Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (uniparental disomy. Parental SNP arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7) with regions of heterodisomy and isodisomy. mUPD7 is the cause of approximately 5-10% of Silver-Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. Although SRS was not suspected in our patient, these findings explain his short stature. SGCE methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M-D and help to optimize his medication regimen. In conclusion, we show that M-D is a clinical feature that may be associated with SRS due to mUPD7. Individuals with mUPD7 should be monitored for the development of movement disorders. Conversely, individuals with M-D and short stature should be evaluated for SRS.

  1. Diffusion tensor imaging and tractography of the median nerve in carpal tunnel syndrome: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Khalil, C.; Hancart, C.; Thuc, V.Le; Cotten, A. [Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, CHRU de Lille (France); Chantelot, C. [Clinique d' Orthopedie, Hopital Roger Salengro, CHRU de Lille (France); Chechin, D. [Philips Medical Systems, Suresnes (France)

    2008-10-15

    The purpose was to demonstrate the feasibility of in vivo diffusion tensor imaging (DTI) and tractography of the human median nerve with a 1.5-T MR scanner and to assess potential differences in diffusion between healthy volunteers and patients suffering from carpal tunnel syndrome. The median nerve was examined in 13 patients and 13 healthy volunteers with MR DTI and tractography using a 1.5-T MRI scanner with a dedicated wrist coil. T1-weighted images were performed for anatomical correlation. Mean fractional anisotropy (FA) and mean apparent diffusion coefficient (ADC) values were quantified in the median nerve on tractography images. In all subjects, the nerve orientation and course could be detected with tractography. Mean FA values were significantly lower in patients (p=0.03). However, no statistically significant differences were found for mean ADC values. In vivo assessment of the median nerve in the carpal tunnel using DTI with tractography on a 1.5-T MRI scanner is possible. Microstructural parameters can be easily obtained from tractography images. A significant decrease of mean FA values was found in patients suffering from chronic compression of the median nerve. Further investigations are necessary to determine if mean FA values may be correlated with the severity of nerve entrapment. (orig.)

  2. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

    OpenAIRE

    Milewicz, D M; Duvic, M

    1994-01-01

    Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations in different genes, it has been uncertain whether neonatal Marfan syndrome is due to mutations in the fibrillin gene on chromosome 15 or in another gene. We studied an infant with severe neonatal ...

  3. Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.

    Directory of Open Access Journals (Sweden)

    Ramakrishna P Alur

    2010-03-01

    Full Text Available Papillorenal syndrome (PRS, also known as renal-coloboma syndrome is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense mutations have been reported, raising the possibility that more subtle alterations in PAX2 function may be disease-causing. To date, the molecular behaviors of these mutations have not been explored. We describe a novel mouse model of PRS due to a missense mutation in a highly-conserved threonine residue in the paired domain of Pax2 (p.T74A that recapitulates the ocular and kidney findings of patients. This mutation is in the Pax2 paired domain at the same location as two human missense mutations. We show that all three missense mutations disrupt potentially critical hydrogen bonds in atomic models and result in reduced Pax2 transactivation, but do not affect nuclear localization, steady state mRNA levels, or the ability of Pax2 to bind its DNA consensus sequence. Moreover, these mutations show reduced steady-state levels of Pax2 protein in vitro and (for p.T74A in vivo, likely by reducing protein stability. These results suggest that hypomorphic alleles of PAX2/Pax2 can lead to significant disease in humans and mice.

  4. AGE AND GENDER MAY INFLUENCE THE RESULTS OF ROUX-EN-Y GASTRIC BYPASS? Metabolic syndrome parameters

    Directory of Open Access Journals (Sweden)

    Stephan Garcia ANDRADE-SILVA

    2014-09-01

    Full Text Available Context Severe obesity affects the body favoring the development of serious diseases, including hypertension, diabetes mellitus, atherosclerosis and non alcoholic fatty liver disease. Bariatric procedures increased in Brazil in the last decade. Objectives The purpose of this study was to verify if gender and age in date of procedure resulted significant differences in metabolic syndrome parameters after surgery. Methods The study involved 205 medical records of adult patients undergoing Roux-en-Y gastric bypass, stratified by gender and age groups and followed one year by a multidisciplinary team. Results It was observed significant decrease in body mass index, fasting glucose and insulin at all ages and both genders. Lipid profile showed significant improvements except high density lipoprotein cholesterol. Ectopic fat in the liver has decreased after 6 months in patients classified with steatosis at baseline. Patients classified as hypertensive blood pressure levels decreased 6 months after surgical intervention. Conclusions Roux-en-Y gastric bypass proved to be an important tool in remission of metabolic syndrome parameters. The reduction of body mass accompanied to decrease in insulin resistance resulted in lower prevalence of comorbidities associated with obesity. The benefits were similar and extended both genders and all age groups between 18 and 65 years old.

  5. Glomerular hyperfiltration and metabolic syndrome: results from the FIrenze-BAgno A Ripoli (FIBAR) Study.

    Science.gov (United States)

    Monami, Matteo; Pala, Laura; Bardini, Gianluca; Francesconi, Paolo; Cresci, Barbara; Marchionni, Niccolò; Rotella, Carlo Maria; Mannucci, Edoardo

    2009-09-01

    Metabolic syndrome (MS) has been associated with microalbuminuria and kidney disease. In the present cohort study, different methods for the estimation of glomerular filtration rate (GFR) on the basis of serum creatinine were compared with respect to their association with MS and their predictive value for incident diabetes mellitus. The present analysis was performed on the cohort of subjects enrolled in the FIBAR study, a screening program for diabetes. GFR was estimated (eGFR) using three different methods: Cockroft-Gault (CG) formula, using actual body weight (CAW), CG formula using ideal body weight (CIW), and Modification of Diet in Renal Disease formula (M). The study was performed on 2,694 nondiabetic subjects, without history of renal insufficiency or serum creatinine at baseline >1.5 mg/dl. Mean follow-up was 27.8 +/- 11.5 months. Elevated eGFR, estimated with different methods, was associated with increased prevalence of most components of MS; however, an association between elevated clearance and MS was observed only when using CAW, which overestimates filtration in obese subjects. During follow-up, 40 new cases of diabetes were recorded (0.5/100 patient*years). After adjusting for age and sex, the HR (with 95% confidence intervals) for diabetes for patients in the highest quintile of eGFR was 1.14 [0.44-2.99], 0.89 [0.31-2.51], and 1.01 [0.42-2.41] for formula CAW, CIW, and M, respectively (all p > 0.7). Elevated eGFR, estimated through methods which do not produce a systematic overestimate in obese subjects, is not associated with the diagnosis of MS, and does not predict diabetes.

  6. Mitigating effects of hUCB-MSCs on the hematopoietic syndrome resulting from total body irradiation.

    Science.gov (United States)

    Shim, Sehwan; Lee, Seung Bum; Lee, Jong-geol; Jang, Won-Suk; Lee, Sun-Joo; Park, Sunhoo; Lee, Seung-Sook

    2013-04-01

    This study evaluated the clinical and pathologic effects of human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) in the recovery from total body irradiation by comparing it with the effects of granulocyte-colony stimulating factor (G-CSF), an efficacious drug in the treatment of acute bone marrow radiation syndrome. BALB/c mice were treated with G-CSF or hUCB-MSCs after they were irradiated with 7 Gy cobalt-60 γ-rays. Circulating blood counts, histopathologic changes in the bone marrow, and plasma level of Flt-3L and transforming growth factor (TGF-β1) were monitored in the postirradiation period. Hematologic analysis revealed that the peripheral leukocyte counts were markedly increased in the hUCB-MSCs-treated group, whereas G-CSF-treated mice did not recover significantly. Moreover, differential counts showed that hUCB-MSC treatment has regenerative effects on white blood cells, lymphocytes, and monocytes compared with the irradiated group. Treatment with hUCB-MSCs or G-CSF significantly increased immunoreactivity of Ki-67 until 3 weeks after total body irradiation. However, at 3 weeks, the number of Ki-67 immunoreactive cells significantly increased in the hUCB-MSCs-treated group compared with the G-CSF-treated group. Furthermore, hUCB-MSC treatment significantly modulated plasma levels of the hematopoietic cytokines Flt-3L and TGF-β1, whereas G-CSF treatment failed to decrease the plasma Flt-3L levels at 2 weeks after irradiation. Based on the differences in circulating blood cell reconstitution and cell density of bone marrow, the authors suggest that MSC treatment is superior to G-CSF treatment for hematopoietic reconstitution following sublethal dose radiation exposure.

  7. Predictors of outcome in patients with acute coronary syndromes without persistent ST-segment elevation. Results from an international trial of 9461 patients. The PURSUIT Investigators

    NARCIS (Netherlands)

    W.C. Chang; K.L. Lee (Kerry); K.M. Akkerhuis (Martijn); M.L. Simoons (Maarten); R.A. Harrington (Robert Alex); E.J. Topol (Eric); P.W. Armstrong (Paul); R.M. Califf (Robert); A.M. Lincoff (Michael); K.S. Pieper (Karen); E.W. Steyerberg (Ewout); R.G. Wilcox (Robert); J.W. Deckers (Jaap); H. Boersma (Eric)

    2000-01-01

    textabstractBACKGROUND: Appropriate treatment policies should include an accurate estimate of a patient's baseline risk. Risk modeling to date has been underutilized in patients with acute coronary syndromes without persistent ST-segment elevation. METHODS AND RESULTS: We analyzed

  8. Late sodium current block for drug-induced long QT syndrome: Results from a prospective clinical trial.

    Science.gov (United States)

    Johannesen, L; Vicente, J; Mason, J W; Erato, C; Sanabria, C; Waite-Labott, K; Hong, M; Lin, J; Guo, P; Mutlib, A; Wang, J; Crumb, W J; Blinova, K; Chan, D; Stohlman, J; Florian, J; Ugander, M; Stockbridge, N; Strauss, D G

    2016-02-01

    Drug-induced long QT syndrome has resulted in many drugs being withdrawn from the market. At the same time, the current regulatory paradigm for screening new drugs causing long QT syndrome is preventing drugs from reaching the market, sometimes inappropriately. In this study, we report the results of a first-of-a-kind clinical trial studying late sodium (mexiletine and lidocaine) and calcium (diltiazem) current blocking drugs to counteract the effects of hERG potassium channel blocking drugs (dofetilide and moxifloxacin). We demonstrate that both mexiletine and lidocaine substantially reduce heart-rate corrected QT (QTc) prolongation from dofetilide by 20 ms. Furthermore, all QTc shortening occurs in the heart-rate corrected J-Tpeak (J-Tpeak c) interval, the biomarker we identified as a sign of late sodium current block. This clinical trial demonstrates that late sodium blocking drugs can substantially reduce QTc prolongation from hERG potassium channel block and assessment of J-Tpeak c may add value beyond only assessing QTc.

  9. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

    Science.gov (United States)

    Spiegel, Ronen; Soiferman, Devorah; Shaag, Avraham; Shalev, Stavit; Elpeleg, Orly; Saada, Ann

    2016-08-19

    Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia (HSP) caused by deleterious mutations in the SPG20 gene. Although the disease is associated with a loss of function mechanism of spartin, the protein encoded by SPG20, the precise pathogenesis is yet to be elucidated. Recent data indicated an important role for spartin in both mitochondrial maintenance and function. Here we report a child presenting with progressive spastic paraparesis, generalized muscle weakness, dysarthria, impaired growth, and severe isolated decrease in muscle cytochrome c oxidase (COX) activity. Whole exome sequencing identified the homozygous c.988A>G variant in SPG20 gene (p.Met330Val) resulting in almost complete loss of spartin in skeletal muscle. Further analyses demonstrated significant tissue specific reduction of COX 4, a nuclear encoded subunit of COX, in muscle suggesting a role for spartin in proper mitochondrial respiratory chain function mediated by COX activity. Our findings need to be verified in other Troyer syndrome patients in order to classify it as a form of HSP caused by mitochondrial dysfunction.

  10. A Case of Waterhouse-Friderichsen Syndrome Resulting from an Invasive Pneumococcal Infection in a Patient with a Hypoplastic Spleen

    Directory of Open Access Journals (Sweden)

    Kazumasa Emori

    2016-01-01

    Full Text Available A 50-year-old male was brought to our emergency department by ambulance with complaints of pain and numbness in both legs. At arrival, purple spots were evident on his neck and face. Examination of the vital sign indicated septic shock. Laboratory data and blood gas analysis revealed disseminated intravascular coagulation, multiple organ failure, and metabolic acidosis. Peripheral blood smears revealed Howell-Jolly bodies, indicating decreased splenic function. A rapid urinary pneumococcal antigen test was also found to be positive. After admission to the intensive care unit, extensive treatment, including polymyxin-B direct hemoperfusion and administration of methylprednisolone and broad spectrum antibiotics was immediately initiated. Despite of our efforts to save his life, the patient died six hours after the arrival. The following day, blood cultures revealed the presence of Streptococcus pneumoniae. An autopsy revealed a hypoplastic spleen and a bilateral adrenal hemorrhage, indicating acute adrenal insufficiency caused by sepsis. Finally, the patient was diagnosed with Waterhouse-Friderichsen syndrome. Although severe infection may be seen in the splenectomized patients, it should be noted that patients with a hypoplastic spleen may have acute severe infections. We, therefore, report a case of Waterhouse-Friderichsen syndrome resulting from an invasive pneumococcal infection in a patient with a hypoplastic spleen.

  11. Establishing the tolerability and performance of tamarind seed polysaccharide (TSP in treating dry eye syndrome: results of a clinical study

    Directory of Open Access Journals (Sweden)

    Valente Cristiana

    2007-03-01

    Full Text Available Abstract Background One of the problems arising from available preparations for dry eye syndrome is the limited residence time of products on the ocular surface. In this paper, we look at an innovative new treatment for dry eye, tamarind seed polysaccharide (TSP. TSP possesses mucomimetic, mucoadhesive and pseudoplastic properties. The 'mucin-like' molecular structure of TSP is similar to corneal and conjunctival mucin 1 (MUC1, a transmembrane glycoprotein thought to play an essential role in protecting and wetting the corneal surface and may explain its increased retention on the eye surface. Methods The activity of TSP and hyaluronic acid (HA in the treatment of dry eye syndrome was compared in an open-label, randomised, single-centre clinical study. Thirty patients were randomised to receive three or more applications per day of either TSP 0.5%, TSP 1% or HA 0.2% (Hyalistil™ over a period of 90 days. The primary objective of tolerability was assessed by visual analogue scale (VAS, scoring of specific symptoms and the incidence of adverse events. Secondary objectives included improvement in stability of the precorneal tear film, subjective symptoms and corneal and conjunctival staining. Results TSP 0.5% and 1% were comparable to HA 0.2% with regard to both primary and secondary objective parameters. TSP 1% showed benefits over HA 0.2% for the subjective symptoms; trouble blinking, ocular burning and foreign body sensation. Conclusion This study suggests that TSP 0.5% and 1% offer at least equivalent relief to HA 0.2% for dry eye syndrome. All treatments demonstrated optimal tolerability and are suitable for frequent use in the therapy of dry eye. TSP 1% produced promising results in terms of improvements in certain patient symptoms and suggests benefits of the TSP formulation. This study paves the way for a larger study to further establish the performance and safety of TSP compared with HA and highlights the need to expand this therapeutic

  12. Perisciatic Ultrasound-Guided Infiltration for Treatment of Deep Gluteal Syndrome: Description of Technique and Preliminary Results.

    Science.gov (United States)

    Rosales, Julio; García, Nicolás; Rafols, Claudio; Pérez, Marcelo; Verdugo, Marco A

    2015-11-01

    The objective of this study was to describe a perisciatic ultrasound-guided infiltration technique for treatment of deep gluteal syndrome and to report its preliminary clinical results. A mixture of saline (20 mL), a local anesthetic (4 mL), and a corticosteroid solution (1 mL) was infiltrated in the perisciatic region between the gluteus maximus and pelvitrochanteric muscles. Relative pain relief was achieved in 73.7% of the patients, with average preprocedural and postprocedural visual analog scale scores of 8.3 and 2.8, respectively. Fifty percent of patients reported recurrence of discomfort, and the average duration of the therapeutic effect in these patients was 5.3 weeks.

  13. The Popeye syndrome--brachial artery entrapment as a result of muscular hypertrophy.

    Science.gov (United States)

    Biemans, R G

    1984-08-01

    In eight patients a diagnosis of entrapment of the brachial artery in the cubital fossa was established. All were muscular middle-aged men, who had performed heavy work with their arms for many years. For no immediately apparent reason they began to complain of weakness of the musculature of forearm and hand. The clinical details, diagnosis and simple treatment, which resulted in every case in complete relief of symptoms, are described.

  14. [Surgical treatment of the Marcus-Gunn syndrome. Indications and results. Apropos of 15 cases].

    Science.gov (United States)

    Morax, S; Mimoun, G

    1989-01-01

    Fifteen cases of jaw-winking blepharoptosis treated, are reported, to suggest the management of the surgical methods. The degree of the ptosis, the eyelid retraction, the surgical procedures are reviewed. Patients with a wild retraction required a levator muscle resection. Patients with a moderate or severe retraction required an unilateral levator denervation with frontalis suspension. In this case, the most satisfactory surgical results were obtained with unilateral levator denervation on the affected side compared with a bilateral frontalis suspension with fresh autogenous fascia. Then, the surgical procedure seems to depend especially on the eyelid retraction.

  15. Pain syndromes in hemiplegic patients and their effects on rehabilitation results.

    Science.gov (United States)

    Caglar, Nil Sayiner; Akin, Turkan; Aytekin, Ebru; Komut, Ece Akyol; Ustabasioglu, Fatma; Okur, SibelCaglar; Dogan, YaseminPekin; Erdem, Halil İbrahim; Ataoglu, Emine; Yalcinkaya, EbruYilmaz

    2016-03-01

    [Purpose] The aim of this study was to determine the frequency, type, and location of pain in hemiplegic patients and the effects on rehabilitation results in our inpatient rehabilitation unit. [Subjects and Methods] Patients rehabilitated between January 2010 and July 2012 were investigated retrospectively. Properties of pain were recorded. Pre- and post-rehabilitation motor evaluation and achievement in daily activities were considered, and differences in scores between groups classified as with and without pain were examined. [Results] The number of patients included in the study was 156. The mean age was 64.28 ± 12.45 years, the mean disease duration was 11.10 months, and the gender distribution was 75 males (48%) and 81 females (52%). Fortysix (29.5%) patients had pain complaints. The nociceptive pain ratio was 86.7%, and the neuropathic pain ratio was 13.3%. Pain was mostly localized at the shoulder joint, with the proportion being 86.9%. In the pain group, statistically significant improvement was found in pain scores after the treatment. There was no significant difference between groups in the pre- and post-rehabilitation Brunnstrom motor evaluation and functional independence measurement scores. [Conclusion] Nociceptive pain is more common than neuropathic pain in patients with hemiplegia, and the shoulder joint is the most frequent location of nociceptive pain.

  16. Tissue Doppler echocardiographic quantification. Comparison to coronary angiography results in Acute Coronary Syndrome patients

    Directory of Open Access Journals (Sweden)

    Allal Joseph

    2005-04-01

    Full Text Available Abstract Background Multiples indices have been described using tissue Doppler imaging (DTI capabilities. The aim of this study was to assess the capability of one or several regional DTI parameters in separating control from ischemic myocardium. Methods Twenty-eight patients with acute myocardial infarction were imaged within 24-hour following an emergent coronary angioplasty. Seventeen controls without any coronary artery or myocardial disease were also explored. Global and regional left ventricular functions were assessed. High frame rate color DTI cineloop recordings were made in apical 4 and 2-chamber for subsequent analysis. Peak velocity during isovolumic contraction time (IVC, ejection time, isovolumic relaxation (IVR and filling time were measured at the mitral annulus and the basal, mid and apical segments of each of the walls studied as well as peak systolic displacement and peak of strain. Results DTI-analysis enabled us to discriminate between the 3 populations (controls, inferior and anterior AMI. Even in non-ischemic segments, velocities and displacements were reduced in the 2 AMI populations. Peak systolic displacement was the best parameter to discriminate controls from AMI groups (wall by wall, p was systematically Conclusion DTI-analysis appears to be valuable in ischemic heart disease assessment. Its clinical impact remains to be established. However this simple index might really help in intensive care unit routine practice.

  17. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen;

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited....... We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...

  18. [Guillain-Barre syndrome as a result of poisoning with a mixture of "kompot"(Polish heroin) and drugs].

    Science.gov (United States)

    Gawlikowski, T; Winnik, L

    2001-01-01

    Guillain-Barré Syndrome is the most common form of polineuropathy. It is suggested that some infectious, immune and allergic factors are involved in developing the syndrome. "Kompot" or "Polish heroine", a domestic product, is produced from poppy straw or juice of poppy head (Papaver somniferum) and it is administered intravenously. "Kompot" shows variable contents of heroine, 6-MAM, 3-MAM, morphine, acetylo-codeine and codeine as well as papaverine, thebaine and narcotine. The case history of a young man dependent on "Polish heroine" who developed the Guillain-Barré Syndrome due to severe intoxication induced by home made heroine, barbiturates and benzodiazepines is described.

  19. Improving care for patients with acute coronary syndromes: initial results from the National Audit of Myocardial Infarction Project (MINAP)

    OpenAIRE

    2004-01-01

    Objective: To describe the improvements in care that have followed the introduction of an electronic data entry and analysis system providing contemporary feedback on the management of acute coronary syndromes in 230 hospitals in England and Wales.

  20. Cost-effectiveness of internet-based cognitive behavior therapy for irritable bowel syndrome: results from a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Paxling Björn

    2011-04-01

    Full Text Available Abstract Background Irritable Bowel Syndrome (IBS is highly prevalent and is associated with a substantial economic burden. Cognitive behavior therapy (CBT has been shown to be effective in treating IBS. The aim of this study was to evaluate the cost-effectiveness of a new treatment alternative, internet-delivered CBT based on exposure and mindfulness exercises. Methods Participants (N = 85 with IBS were recruited through self-referral and were assessed via a telephone interview and self-report measures on the internet. Participants were randomized to internet-delivered CBT or to a discussion forum. Economic data was assessed at pre-, post- and at 3-month and 1 year follow-up. Results Significant cost reductions were found for the treatment group at $16,806 per successfully treated case. The cost reductions were mainly driven by reduced work loss in the treatment group. Results were sustained at 3-month and 1 year follow-up. Conclusions Internet-delivered CBT appears to generate health gains in IBS treatment and is associated with cost-savings from a societal perspective.

  1. Blind Loop Syndrome

    Science.gov (United States)

    ... more commonly result from other conditions such as short bowel syndrome or chronic pancreatitis. Small intestine aspirate and fluid ... people with severe blind loop syndrome resulting in short bowel syndrome. References Townsend CM Jr, et al. Sabiston Textbook ...

  2. Benign painful shoulder syndrome. Initial results of a single-center prospective randomized radiotherapy dose-optimization trial

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen (Germany). Department of Radiation Oncology

    2012-12-15

    Background and purpose: To compare the efficacy of two different dose-fractionation schedules for radiotherapy of patients with benign painful shoulder syndrome. Patients and methods: Between February 2006 and February 2010, 312 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received radiotherapy with an orthovoltage technique. One radiotherapy course consisted of 6 single fractions in 3 weeks. In case of insufficient remission of pain after 6 weeks, a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. The endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after radiotherapy using a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 83% directly after and 85% 6 weeks after radiotherapy. The mean VAS values before, directly after, and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 56.8 {+-} 23.7 and 53.2 {+-} 21.8 (p = 0.158), 38.2 {+-} 26.1 and 34.0 {+-} 24.5 (p = 0.189), and 33.0 {+-} 27.2 and 23.7 {+-} 22.7 (p = 0.044), respectively. The mean CPS before, directly after, and 6 weeks after treatment was 9.7 {+-} 3.0 and 9.5 {+-} 2.7 (p = 0.309), 6.1 {+-} 3.6 and 5.4 {+-} 3.6 (p = 0.096), 5.3 {+-} 3.7 and 4.1 {+-} 3.7 (p = 0.052), respectively. Despite a slight advantage in the VAS analysis for the 1.0 Gy group for delayed response, the CPS analysis revealed no statistically significant differences between the two single-dose trial arms for early (p = 0.652) and delayed response quality (p = 0.380). Conclusion: Radiotherapy is an effective treatment option for the management of benign painful shoulder syndrome. Concerning radiation protection, the dose for a radiotherapy series is recommended not to exceed 3-6 Gy. (orig.)

  3. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

    Science.gov (United States)

    Guichard, C; Harricane, M C; Lafitte, J J; Godard, P; Zaegel, M; Tack, V; Lalau, G; Bouvagnet, P

    2001-04-01

    Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagellae. The axonemal dynein intermediate-chain gene 1 (DNAI1), which has been demonstrated to be responsible for a case of primary ciliary dyskinesia (PCD) without situs inversus, was screened for mutation in a series of 34 patients with KS. We identified compound heterozygous DNAI1 gene defects in three independent patients and in two of their siblings who presented with PCD and situs solitus (i.e., normal position of inner organs). Strikingly, these five patients share one mutant allele (splice defect), which is identical to one of the mutant DNAI1 alleles found in the patient with PCD, reported elsewhere. Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS).

  4. Association between Depressive Symptoms and Metabolic Syndrome in Police Officers: Results from Two Cross-Sectional Studies

    Science.gov (United States)

    Hartley, Tara A.; Knox, Sarah S.; Fekedulegn, Desta; Barbosa-Leiker, Celestina; Violanti, John M.; Andrew, Michael E.; Burchfiel, Cecil M.

    2012-01-01

    Policing is one of the most dangerous and stressful occupations and such stress can have deleterious effects on health. The purpose of this study was to examine the association between depressive symptoms and metabolic syndrome (MetSyn) in male and female police officers from two study populations, Buffalo, NY and Spokane, WA. Depressive symptoms were measured using the Center for Epidemiologic Studies-Depression (CES-D) scale. MetSyn was defined using the 2005 AHA/NHBLI guidelines. Analysis of covariance was used to describe differences in number of MetSyn components across depressive symptom categories. The number of MetSyn components increased significantly across categories of CES-D for Spokane men only (p-trend = 0.003). For each 5-unit increase in CES-D score, odds increased by 47.6% for having hypertriglyceridemia, by 51.8% for having hypertension, and by 56.7% for having glucose intolerance. Exploring this association is important since both are predictors of future chronic health problems and the results could be helpful in developing future gender-specific prevention and intervention efforts among police officers. PMID:22315628

  5. Association between Depressive Symptoms and Metabolic Syndrome in Police Officers: Results from Two Cross-Sectional Studies

    Directory of Open Access Journals (Sweden)

    Tara A. Hartley

    2012-01-01

    Full Text Available Policing is one of the most dangerous and stressful occupations and such stress can have deleterious effects on health. The purpose of this study was to examine the association between depressive symptoms and metabolic syndrome (MetSyn in male and female police officers from two study populations, Buffalo, NY and Spokane, WA. Depressive symptoms were measured using the Center for Epidemiologic Studies-Depression (CES-D scale. MetSyn was defined using the 2005 AHA/NHBLI guidelines. Analysis of covariance was used to describe differences in number of MetSyn components across depressive symptom categories. The number of MetSyn components increased significantly across categories of CES-D for Spokane men only (p-trend = 0.003. For each 5-unit increase in CES-D score, odds increased by 47.6% for having hypertriglyceridemia, by 51.8% for having hypertension, and by 56.7% for having glucose intolerance. Exploring this association is important since both are predictors of future chronic health problems and the results could be helpful in developing future gender-specific prevention and intervention efforts among police officers.

  6. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  7. Effect of Vitamin B6 on Clinical Symptoms and Electrodiagnostic Results of Patients with Carpal Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahnaz Talebi

    2013-08-01

    Full Text Available Purpose: Carpal tunnel syndrome (CTS refers to a cluster of signs and symptoms that stems from compression of the median nerve traveling through carpal tunnel. Surgery is a definite treatment for CTS; however, many conservative therapies have been proposed. The present study set out to assess the effect of vitamin B6 in patients with CTS. Methods: Forty patients (67 hands with mild-moderate CTS were initially selected and randomly assigned into two groups as follows: 1 Case group with 20 subjects (32 affected hands receiving vitamin B6 (120 mg/day for 3 months and splinting. 2 Control group with 19 subjects (35 affected hands only received splinting. One subject from the control group dispensed with continuing participation in the research. Daily symptoms and electrodiagnostic (NCV-EMG results were assessed at baseline and after 3 months. Results: Nocturnal awakening frequency due to pain, daily pain, daily pain frequency, daily pain persistence, hand numbness, hand weakness, hand tingling, severity of nocturnal numbness and tingling, nocturnal awakening frequency owing to hand numbness and tingling, and clumsiness in handling objects improved significantly in the vitamin B6-treated patients; even so, only problem with opening a jam bottle and handling phone significantly reduced in the control group. The median nerve sensory latency mean decreased following the treatment; and the median nerve sensory amplitude mean and sensory conduction velocity mean increased. Conclusion: The present study suggests that vitamin B6 treatment improves clinical symptoms and sensory electrodiagnostic results in CTS patients, and thus is recommended for CTS treatment.

  8. THE INFLUENCE OF INSULIN RESISTANCE ON THE FORMATION AND PROGRESSION OF METABOLIC SYNDROME COMPONENTS (THE RESULTS OF A FIVE-YEAR STUDY

    Directory of Open Access Journals (Sweden)

    G. E. Roytberg

    2015-01-01

    Full Text Available The combination of risk factors that make up a metabolic syndrome increases the risk of cardiovascular disease and type 2 diabetes. In the presence of insulin resistance the effects of risk factors combine, thereby increasing the probability of the development of cardiovascular disease and its complications.Aim. To study the effect of insulin resistance on the formation and progression of metabolic syndrome components on the basis of a 5-year follow-up.Material and methods. An outpatient examination of clinically healthy patients aged 20-65 years (n=711; 327 men and 384 women was conducted. The average body mass index did not exceed 34.5 kg/m2. Biochemical blood analysis was performed to assess the state of lipid and carbohydrate metabolism. Insulin resistance was diagnosed using HOMAIR>2.6.Results. It has been detected that patients with insulin resistance have significantly higher incidence of the combination of three or more components of the metabolic syndrome (p<0.01. The incidence of multicomponent syndrome among the examined patients with insulin resistance was 69.7%, which is 1.8 times higher than in patients with initially preserved tissue sensitivity to insulin.Conclusion. The follow-up study of patients with insulin resistance shows that in the absence of correction of metabolic disorders, the development of multicomponent disorders that make up a metabolic syndrome occurs.

  9. THE INFLUENCE OF INSULIN RESISTANCE ON THE FORMATION AND PROGRESSION OF METABOLIC SYNDROME COMPONENTS (THE RESULTS OF A FIVE-YEAR STUDY

    Directory of Open Access Journals (Sweden)

    G. E. Roytberg

    2015-09-01

    Full Text Available The combination of risk factors that make up a metabolic syndrome increases the risk of cardiovascular disease and type 2 diabetes. In the presence of insulin resistance the effects of risk factors combine, thereby increasing the probability of the development of cardiovascular disease and its complications.Aim. To study the effect of insulin resistance on the formation and progression of metabolic syndrome components on the basis of a 5-year follow-up.Material and methods. An outpatient examination of clinically healthy patients aged 20-65 years (n=711; 327 men and 384 women was conducted. The average body mass index did not exceed 34.5 kg/m2. Biochemical blood analysis was performed to assess the state of lipid and carbohydrate metabolism. Insulin resistance was diagnosed using HOMAIR>2.6.Results. It has been detected that patients with insulin resistance have significantly higher incidence of the combination of three or more components of the metabolic syndrome (p<0.01. The incidence of multicomponent syndrome among the examined patients with insulin resistance was 69.7%, which is 1.8 times higher than in patients with initially preserved tissue sensitivity to insulin.Conclusion. The follow-up study of patients with insulin resistance shows that in the absence of correction of metabolic disorders, the development of multicomponent disorders that make up a metabolic syndrome occurs.

  10. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

    Science.gov (United States)

    Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E; Robinson, Peter N; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

    2014-04-01

    We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes.

  11. Retinal nerve fiber layer thickness changes in obstructive sleep apnea syndrome: one year follow-up results

    Institute of Scientific and Technical Information of China (English)

    Mehmet; Ozgur; Zengin; Ibrahim; Tuncer; Eyyup; Karahan

    2014-01-01

    ·AIM: To investigate the retinal nerve fiber layer(RNFL)thickness changes in patients with obstructive sleep apnea syndrome(OSAS) for one year follow-up. To discuss the possibility of detecting tendency of glaucoma in this population by using spectral domain optical coherence tomography(3D-OCT-2000 Spectral domain).·METHODS: After polysomnographic study, all subjects(64 OSAS patients and 40 controls) underwent detailed ophthalmological examination. After these examinations,patients with glaucoma and patients who had ophthalmological and/or systemic disease were excluded from the study.Totally, 20 patients in OSAS group and five patients in controls were excluded from the study in the first examination and follow-up period. The RNFL thickness was assessed with OCT. Forty-four OSAS patients and 35 control subjects were followed up for12 mo. RNFL thickness change and OSAS patients were evaluated for severity of disease by Apnea-Hypopnea Index(AHI).·RESULTS: Forty-four OSAS patients and 35 controls were enrolled in the study. Statistically significance was found between OSAS patients and controls at the 12 thmo.Average RNFL thickness was found to be significantly lower in last measurements in OSAS patients when compared with first measurements and control subjects(P <0.001, 0.002, respectively). There was a statistically significant correlation among AHI, and RNFL thickness(P <0.05).·CONCLUSION: The results suggest that the patients with OSAS were related with a proportional decrease in the RNFL thickness. These patients should be followed up regularly for glaucomatous changes. Detecting more RNFL thinning in severe OSAS was important.

  12. A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester : a pilot study

    NARCIS (Netherlands)

    Weinans, M.J.; Kooij, L.; Muller, M.A.; Bilardo, K.M.; van Lith, J.M.; Tymstra, T.

    2004-01-01

    OBJECTIVE: To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD: Semi-quantitative questionnaires were sent to 40 women with a

  13. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  14. Association between upper leg length and metabolic syndrome among US elderly participants-results from the NHANES (2009-2010)

    Institute of Scientific and Technical Information of China (English)

    Mike Pryzbek; Jian Liu

    2016-01-01

    Objective To examine the relationship between upper leg length (ULL) and metabolic syndrome (MetS) in older adults.Methods Data was collected from National Health and Nutritional Examination Survey (NHANES, 2009–2010). 786 individuals (385 males and 401 females) who were 60 years of age or older were included in this analysis. MetS was defined as having at least three of following conditions, i.e., cen-tral obesity, dyslipidemia, insulin resistance, and hypertension based on National Cholesterol Education Program guidelines. ULL was grouped into gender-specific tertiles.Results328 (41.7%) of participants were categorized as having MetS (38.7% in men and 49.1% in women,P = 0.002). Compared to individuals in the 1st tertile (T1) of ULL, those in the 3rd tertile (T3) had lower levels of triglycerides (120.8 vs. 153.1 mg/dL,P = 0.045), waist circumference (100.7vs. 104.2 cm,P = 0.049), and systolic blood pressure (126.7vs. 131.4 mmHg, P = 0.005), but higher levels of high-density-lipoprotein cholesterol (58.1vs. 52.4 mg/dL,P = 0.024). The odds ratios (95% CI) of MetS from multivariate logistic regression were 0.57 (0.32–1.03) for individuals in the T2 of ULL and 0.39 (0.24–0.64) for individuals in the T3 of ULL, respectively (P-value for the trend 0.022).Conclusions ULL was negatively associated with MetS in older adults. Further research is needed to identify potential mechanisms.

  15. Family physician-led, team-based, lifestyle intervention in patients with metabolic syndrome: results of a multicentre feasibility project

    Science.gov (United States)

    Jeejeebhoy, Khursheed; Dhaliwal, Rupinder; Heyland, Daren K.; Leung, Roger; Day, Andrew G.; Brauer, Paula; Royall, Dawna; Tremblay, Angelo; Mutch, David M.; Pliamm, Lew; Rhéaume, Caroline; Klein, Doug

    2017-01-01

    Background: Metabolic syndrome (MetS) is a medical condition with major complications and health care costs. Previous research has shown that diet and exercise can improve and reverse this condition. The goal of this study was to test the feasibility and effectiveness of implementing the Canadian Health Advanced by Nutrition and Graded Exercise (CHANGE) program into diverse family medicine practices to improve MetS. Methods: In this longitudinal before-after study, 305 adult patients with MetS were recruited from 3 diverse family medicine team-based organizations to the CHANGE personalized diet and exercise program. Participants were followed for 12 months. Primary outcomes included feasibility and reversal of MetS. Secondary outcomes included improvement in MetS components, changes in diet quality, aerobic fitness and cardiovascular risk. Results: Participants attended 76% and 90% of the kinesiologist and dietitian visits, respectively. At 12 months, 19% of patients (95% confidence interval [CI] 14%-24%) showed reversal of MetS, VO2max increased by 16% (95% CI 13%-18%), and Healthy Eating Index and Mediterranean Diet Scores improved by 9.6% (95% CI 7.6%-11.6%) and 1.4% (1.1%-1.6%), respectively. In addition, the Prospective Cardiovascular Munster (PROCAM) 10-year risk of acute coronary event decreased by 1.4%, from a baseline of 8.6%. Interpretation: A team-based program led by the family physician that educates patients about the risks of MetS, and with a dietitian and kinesiologist, empowers them to undertake an individualized supervised program of diet modification and exercise, is feasible, improves aerobic capacity and diet quality, reverses MetS and improves MetS components at 12 months.

  16. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen;

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited...

  17. Ambulatory treatment of sleep apnea syndrome with CO2 laser: laser-assisted UPPP (LAUP), results on 70 patients

    Science.gov (United States)

    Kamami, Yves-Victor

    1995-05-01

    The pharyngeal airway obstruction during sleep in the Obstructive Sleep Apnea Syndrome (OSAS) can be improved after treatment by LAUP (Laser Assisted Uvulopalatoplasty). This new technique, performed under local anesthesia, permits the snoring treatment without any hospitalization, or general anesthetic; like an ordinary dental visit. This is done by reducing the amount of tissue in the uvula, the velum, and the upper part of the posterior pillars. Our experience with the LAUP in Sleep Apnea Syndrome is described, from December 1988 to May 1994, in 70 patients. Among 62 patients classified as successful `responders', the respiratory disturbance index was reduced more than 50%. Among all the 70 patients: in 51.4 % of cases (36 patients), there's a healing of snoring and Sleep Apnea Syndrome. In 37.2% of cases (26 patients), there's an improvement reduction of length and number of apneas and a significant improvement in nocturnal oxygen saturation. 11.4% (8 patients), are relative failures, with always decrease of snoring, but still Sleep Apnea Syndrome, (with a higher B.M.I.). There were no important complications reported. Patients withstand it well and there's had a better tolerance of the C.P.A.P. in the cases of OSAS LRPP failures. Popularization of LAUP will require serious training of surgeon and further long-term studies.

  18. How women deal with the results of serum screening for Down syndrome in the second trimester of pregnancy

    NARCIS (Netherlands)

    Huijssoon, AMG; Tymstra, T; Gerrits, MCF; Beekhuis, [No Value; Mantingh, A; Beekhuis, J.R.

    2000-01-01

    To gain insight into how pregnant women experience serum screening for Down syndrome, we sent questionnaires to two groups of relevant subjects in the north of the Netherlands. The questionnaires addressed the following issues: decision-making process, knowledge and opinions. Questionnaire A was sen

  19. Endourologic Intervention for Management of Infertility in a Man with Zinner Syndrome Resulting in a Natural Pregnancy

    OpenAIRE

    Aghaways, Ismaeel; Ahmed, Shyaw M.

    2016-01-01

    Abstract Background: Ipsilateral renal agenesis associated with seminal vesicular cysts is an uncommon finding. Zinner syndrome is a rare variant of wolffian duct anomalies with a triad of seminal vesicle cyst, ipsilateral renal agenesis, and male fertility problems due to ejaculatory duct obstruction (EDO). Case Presentation: A 28-year-old man with 6 years history of primary infertility presented with left-side lower abdominal pain. A palpable cystic mass was found on digital rectal examinat...

  20. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  1. [Outbreak of carpal tunnel syndrome of the upper limbs in automobile seat assemblers: results of exposure evaluation and clinical investigation].

    Science.gov (United States)

    Barbieri, P G; Colombini, D; Rocco, A; Custureri, F; Paderno, G

    1996-01-01

    A group of 59 female workers in the sewing and upholstery departments of a factory manufacturing automobile seats underwent clinical and instrumental tests following reports of several cases of suspected carpal tunnel syndrome. A risk evaluation analysis for disorders attributable to repeated trauma of the upper limbs (WMSDs) was simultaneously carried out using the protocol recommended by the EPM Research Unit in Milan. Evidence was found of a high frequency of elementary actions associated with considerable muscular involvement along with inadequate recovery periods. The clinical investigation revealed an unusually high percentage of carpal tunnel syndromes, often associated with Guyon channel syndrome. This disorder affects males and females equally, is often bilateral, and is not associated with known non-occupational factors. The widespread outbreak of work-related musculo-skeletal disorders reported in the departments in question may have arisen from a combination of significant risk factors relating to the types of activities performed, and the long service of the workers. It is reasonable to assume that failure to adopt technical preventive and organisational measures may have stemmed primarily from a poor evaluation of the relevant occupational risks, and from many years of substandard health surveillance practices.

  2. Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Monsanto, Rafael da Costa

    2016-05-01

    Full Text Available Introduction Ramsay Hunt syndrome is the second most common cause of facial palsy. Early and correct treatment should be performed to avoid complications, such as permanent facial nerve dysfunction. Objective The objective of this study is to review the prognosis of the facial palsy on Ramsay Hunt syndrome, considering the different treatments proposed in the literature. Data Synthesis We read the abstract of 78 studies; we selected 31 studies and read them in full. We selected 19 studies for appraisal. Among the 882 selected patients, 621 (70.4% achieved a House-Brackmann score of I or II; 68% of the patients treated only with steroids achieved HB I or II, versus 70.5% when treated with steroids plus antiviral agents. Among patients with complete facial palsy (grades V or VI, 51.4% recovered to grades I or II. The rate of complete recovery varied considering the steroid associated with acyclovir: 81.3% for methylprednisolone, 69.2% for prednisone; 61.4% for prednisolone; and 76.3% for hydrocortisone. Conclusions Patients with Ramsay-hunt syndrome, when early diagnosed and treated, achieve high rates of complete recovery. The association of steroids and acyclovir is better than steroids used in monotherapy.

  3. Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature.

    Science.gov (United States)

    Monsanto, Rafael da Costa; Bittencourt, Aline Gomes; Bobato Neto, Natal José; Beilke, Silvia Carolina Almeida; Lorenzetti, Fabio Tadeu Moura; Salomone, Raquel

    2016-10-01

    Introduction Ramsay Hunt syndrome is the second most common cause of facial palsy. Early and correct treatment should be performed to avoid complications, such as permanent facial nerve dysfunction. Objective The objective of this study is to review the prognosis of the facial palsy on Ramsay Hunt syndrome, considering the different treatments proposed in the literature. Data Synthesis We read the abstract of 78 studies; we selected 31 studies and read them in full. We selected 19 studies for appraisal. Among the 882 selected patients, 621 (70.4%) achieved a House-Brackmann score of I or II; 68% of the patients treated only with steroids achieved HB I or II, versus 70.5% when treated with steroids plus antiviral agents. Among patients with complete facial palsy (grades V or VI), 51.4% recovered to grades I or II. The rate of complete recovery varied considering the steroid associated with acyclovir: 81.3% for methylprednisolone, 69.2% for prednisone; 61.4% for prednisolone; and 76.3% for hydrocortisone. Conclusions Patients with Ramsay-hunt syndrome, when early diagnosed and treated, achieve high rates of complete recovery. The association of steroids and acyclovir is better than steroids used in monotherapy.

  4. Metabolic syndrome

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    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  5. Improved Hypertension Control with the Imidazoline Agonist Moxonidine in a Multinational Metabolic Syndrome Population: Principal Results of the MERSY Study.

    Science.gov (United States)

    Chazova, Irina; Schlaich, Markus P

    2013-01-01

    This study was designed to assess the effects of moxonidine on blood pressure and aspects of the metabolic syndrome in racially diverse population of patients encountered in routine medical practice. Physicians collected data on a minimum of three consecutive patients with uncontrolled essential hypertension and criteria for metabolic syndrome, eligible to receive moxonidine (0.2-0.4 mg once daily) for 6 months, either as monotherapy or as adjunct therapy to current antihypertensive treatment. Systolic and diastolic blood pressure (BP) declined by an average of 24.5 + 14.3 mmHg and 12.6 + 9.1 mmHg, respectively. BP responder rates defined as attaining BP < 140/90 mmHg were significantly (P < 0.001) and substantially higher among younger patients, nonpostmenopausal women, and patients receiving monotherapy. While potentially relevant improvements in the entire cohort were observed in regard to body weight (-2.1 ± 5.4 kg), fasting plasma glucose (from 6.8 to 6.2 mmol/L), and triglycerides (2.4 to 2.0 mmol/L), statistically significant changes in metabolic parameters could only be detected in subgroup analyses. Moxonidine therapy reduced blood pressure and improved rates of blood pressure control in this group of patients. While the observed trend towards improvement in various metabolic parameters merits further investigation, the overall effect of moxonidine treatment is consistent with a reduction of total cardiovascular risk in this hypertensive metabolic syndrome cohort.

  6. Improved Hypertension Control with the Imidazoline Agonist Moxonidine in a Multinational Metabolic Syndrome Population: Principal Results of the MERSY Study

    Directory of Open Access Journals (Sweden)

    Irina Chazova

    2013-01-01

    Full Text Available This study was designed to assess the effects of moxonidine on blood pressure and aspects of the metabolic syndrome in racially diverse population of patients encountered in routine medical practice. Physicians collected data on a minimum of three consecutive patients with uncontrolled essential hypertension and criteria for metabolic syndrome, eligible to receive moxonidine (0.2–0.4 mg once daily for 6 months, either as monotherapy or as adjunct therapy to current antihypertensive treatment. Systolic and diastolic blood pressure (BP declined by an average of 24.5+14.3 mmHg and 12.6+9.1 mmHg, respectively. BP responder rates defined as attaining BP < 140/90 mmHg were significantly (P<0.001 and substantially higher among younger patients, nonpostmenopausal women, and patients receiving monotherapy. While potentially relevant improvements in the entire cohort were observed in regard to body weight (-2.1±5.4 kg, fasting plasma glucose (from 6.8 to 6.2 mmol/L, and triglycerides (2.4 to 2.0 mmol/L, statistically significant changes in metabolic parameters could only be detected in subgroup analyses. Moxonidine therapy reduced blood pressure and improved rates of blood pressure control in this group of patients. While the observed trend towards improvement in various metabolic parameters merits further investigation, the overall effect of moxonidine treatment is consistent with a reduction of total cardiovascular risk in this hypertensive metabolic syndrome cohort.

  7. An early warning system based on syndromic surveillance to detect potential health emergencies among migrants: results of a two-year experience in Italy.

    Science.gov (United States)

    Napoli, Christian; Riccardo, Flavia; Declich, Silvia; Dente, Maria Grazia; Pompa, Maria Grazia; Rizzo, Caterina; Rota, Maria Cristina; Bella, Antonino

    2014-08-20

    Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context.

  8. An Early Warning System Based on Syndromic Surveillance to Detect Potential Health Emergencies among Migrants: Results of a Two-Year Experience in Italy

    Directory of Open Access Journals (Sweden)

    Christian Napoli

    2014-08-01

    Full Text Available Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context.

  9. The longitudinal time course of QTc in early infancy. Preliminary results of a prospective sudden infant death syndrome surveillance program.

    Science.gov (United States)

    Schaffer, M S; Trippel, D L; Buckles, D S; Young, R H; Dolan, P L; Gillette, P C

    1991-03-01

    Eleven hundred one healthy neonates in Charleston County, SC, were enrolled in a prospective, serial measurement sudden infant death syndrome/QT surveillance program. Automated computer-enhanced ECGs were recorded at 1 day of age in the hospital nursery and again at 1 week and 1, 2, and 3 months in the participant's home. At 1 year, the families were contacted by phone or mail and questioned as to the health of the child. Validation studies demonstrated the computer-enhanced ECGs to be 96% accurate, whereas traditional ECG recording and measurement was 94% accurate. No systematic differences in the QTc according to race and sex were observed. There were parallel longitudinal time courses for each race and sex group with a significant (P less than .001) shortening of the QTc at 1 week. There was no evidence of tracking of the QTc during the first 3 months of life. In conclusion, (1) automated, enhanced ECG QTc intervals are superior to traditional electrocardiography while retaining the advantages of automation; (2) there is a significant shortening of the QTc during the first month of life; and (3) a home follow-up sudden infant death syndrome surveillance program is feasible and produces accurate, reliable information.

  10. Successful management of aortic thrombi resulting in spinal cord infarction in a patient with antiphospholipid antibody syndrome and acute cholecystitis

    Directory of Open Access Journals (Sweden)

    Izumi M

    2011-12-01

    Full Text Available Manabu Izumi, Shoko Teraoka, Keisuke Yamashita, Kenji Matsumoto, Tomohiro Muronoi, Yoshimitsu Izawa, Chikara Yonekawa, Masaki Ano, Masayuki SuzukawaDepartment of Emergency and Critical Care Medicine, Jichi Medical University, Tochigi, JapanAbstract: A 74-year-old man with coronary artery disease was suffering from acute nonobstructive cholecystitis and was admitted to a nearby hospital. Dual antiplatelet (aspirin and ticlopidine therapy was discontinued before preparation for surgical resection of the gall bladder. During his time in hospital he was aware of lumbar pain and weakness in both legs. He was transferred to our hospital for further evaluation and therapy. Diffuse intra-aortic thrombi were revealed by computed tomography with contrast media, and magnetic resonance imaging showed spinal cord infarction. However, computed tomography scans of the descending aorta obtained 4 months before admission exhibited no signs of atherosclerotic plaques or intra-aortic thrombi. Laboratory data suggest that antiphospholipid antibody syndrome might have caused these acute multiple intra-arterial thrombi. By restarting dual antiplatelet therapy and increasing the dose of heparin (from 10,000 IU/day to 15,000 IU/day we successfully managed the patient's clinical condition and symptoms. It is important to understand that stopping antiplatelet therapy may rapidly grow thrombi in patients with a hypercoagulative state.Keywords: intra-aortic thrombus, antiphospholipid antibody syndrome, spinal cord infarction

  11. Do all components of the metabolic syndrome cluster together in US Hispanics/Latinos? Results from the Hispanic Community Health Study (HCHS/SOL)

    Science.gov (United States)

    Llabre, Maria M.; Arguelles, William; Schneiderman, Neil; Gallo, Linda C.; Daviglus, Martha L.; Chambers, Earle C.; Sotres-Alvarez, Daniela; Chirinos, Diana A.; Talavera, Gregory A.; Castaneda, Sheila F.; Roesch, Scott C.; Heiss, Gerardo

    2015-01-01

    Purpose Metabolic syndrome (MetS), the clustering of several risk factors for cardiovascular disease, is highly prevalent in Hispanics/Latinos. We tested whether all components significantly loaded on the syndrome in Hispanics/Latinos and whether their contribution differed by sex and Hispanic ancestry. We also examined associations of metabolic syndrome with prevalent diabetes and coronary heart disease (CHD) in Hispanics/Latinos. Methods Data were obtained from a population-based cohort of N = 15,823 participants in the HCHS/SOL who self-identified as being of Central American, Cuban, Dominican, Mexican American, Puerto Rican, or South American ancestry, aged 18-74 years at screening. Results A latent variable model of waist circumference, systolic and diastolic blood pressure, triglycerides, high-density lipoprotein cholesterol (HDL-C), and fasting glucose fit the data in men and women, but the contribution of HDL-C was weak. No difference in the latent model of MetS was detected across Hispanic/Latino ancestry groups. MetS was significantly associated with diabetes and CHD. Conclusions Our results indicate that similar criteria for MetS may be applied across Hispanic/Latino ancestry groups; but call into question the role of HDL-C in classifying the MetS in Hispanics/Latinos. PMID:25818844

  12. Síndrome de Claude Bernard-Horner associada ao empiema pleural Claude Bernard-Horner syndrome resulting from pleural empyema

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    Fernando Luiz Westphal

    2006-04-01

    Full Text Available A síndrome de Claude Bernard-Horner apresenta várias etiologias, ocorre por interrupção do estímulo nervoso em qualquer ponto do trajeto do nervo e pode ser intra ou extratorácica. É relatado um caso dessa síndrome causado por empiema pleural septado, localizado em região paravertebral, no terço superior do hemitórax direito. O paciente foi submetido à toracotomia para drenagem da cavidade pleural. A evolução foi satisfatória, com regressão do quadro infeccioso, expansão pulmonar e remissão da síndrome.Claude Bernard-Horner syndrome presents various etiologies and occurs as the direct result of interrupted nerve signaling at any point along the nerve trajectory, be it intrathoracic or extrathoracic. Herein, we report a case of Claude Bernard-Horner syndrome caused by loculated pleural empyema located in the paravertebral region of the upper third of the right hemithorax. The patient was submitted to thoracotomy in order to drain the infected fluids. The end result was satisfactory, including resolution of the infection, pulmonary expansion, and remission of the syndrome.

  13. Comparative analysis of immunological detection results in patients with POEMS syndrome%POEMS综合征的免疫学检测结果分析

    Institute of Scientific and Technical Information of China (English)

    董喜环

    2008-01-01

    目的 分析研究POEMS综合征的免疫特征,为临床诊断与治疗提供依据.方法 回顾性地对27例POEMS综合征患者血清蛋白电泳(SPE)、免疫固定电泳(IFE)以及免疫球蛋白定量结果进行分析.结果 27例POEMS综合征患者M蛋白检出率IFE明显高于SPE;M蛋白IgG 5例,IgA 16例,IgA出现几率明显高于IgG,且均是λ型;另外16例SPE检测出M带的血清蛋白电泳结果与健康对照组比较差异有统计学意义.结论 M蛋白阴性不排除对POEMS综合征的诊断,对M蛋白阴性患者除进一步多途径寻找依据外,还应更多参考临床表现.%Objective To investigate the immunological feature, and to provide evidence for di-agnosis and treatment of POEMS syndrome. Methods The results detected with serum protein elec-trophoresis (SPE), immunofixation (IFE) and immunoglobulin quantitative assay were retrospectively compared and analyzed in 27 patients with POEMS syndrome. Results For 27 cases of POEMS syn-drome, the detection rate of M protein was significantly higher detected with IFE than that with SPE. Among M protein, IgA was much more frequent than IgG (16 cases vs 5 cases), and all were typeλ. Besides, there was statistical difference in SPE results between 16 cases of POEMS syndrome with M protein positive (detected with SPE) and healthy controls. Conclusion Negative M protein result can't exclude the diagnosis of POEMS syndrome. Further evidence should be searched for, and the clinical data should be emphasized

  14. Chronic sympathoexcitation through loss of Vav3, a Rac1 activator, results in divergent effects on metabolic syndrome and obesity depending on diet.

    Science.gov (United States)

    Menacho-Márquez, Mauricio; Nogueiras, Rubén; Fabbiano, Salvatore; Sauzeau, Vincent; Al-Massadi, Omar; Diéguez, Carlos; Bustelo, Xosé R

    2013-08-01

    The role of the sympathetic nervous system, stress, and hypertension in metabolic syndrome and obesity remains unclear. To clarify this issue, we utilized genetically engineered mice showing chronic sympathoexcitation and hypertension due to lack of Vav3, a Rac1 activator. Here, we report that these animals develop metabolic syndrome under chow diet. However, they show protection from metabolic syndrome and obesity under fatty diets. These effects are elicited by α1-adrenergic- and diet-dependent metabolic changes in liver and the α1/β3 adrenergic-mediated stimulation of brown adipocyte thermogenesis. These responses seem to be engaged by the local action of noradrenaline in target tissues rather than by long-range effects of adrenaline. By contrast, they are not triggered by low parasympathetic drive or the hypertensive state present in Vav3-deficient mice. These results indicate that the sympathetic system plays divergent roles in the etiology of metabolic diseases depending on food regimen, sympathoexcitation source, and disease stage.

  15. Feasibility of robotic radical prostatectomy for medication refractory chronic prostatitis/chronic pelvic pain syndrome: Initial results

    Directory of Open Access Journals (Sweden)

    Sameer Chopra

    2016-01-01

    Full Text Available Four patients diagnosed with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS, met criteria for National Institute of Health (NIH Category III prostatitis, failed multiple medicinal treatments and underwent robotic radical prostatectomy (RRP. Median operative time (range: 157 (127–259 min. Validated functional questionnaires responses and NIH CP symptom index (NIH-CPSI score were collected for each patient's status at different time points pre- and post-operatively. Median decreases (range were: International Prostate Symptom Score - 14 (1–19; Sexual Health Inventory for Men - 6 (−14–22; and NIH-CPSI total - 23.5 (13–33. Median length of follow-up (range was 34 (24–43 months. RRP appears to be an option for carefully selected patients with medication-refractory CP/CPPS who understand that baseline sexual function may not be restored postoperatively.

  16. Feasibility of robotic radical prostatectomy for medication refractory chronic prostatitis/chronic pelvic pain syndrome: Initial results.

    Science.gov (United States)

    Chopra, Sameer; Satkunasivam, Raj; Aron, Monish

    2016-01-01

    Four patients diagnosed with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), met criteria for National Institute of Health (NIH) Category III prostatitis, failed multiple medicinal treatments and underwent robotic radical prostatectomy (RRP). Median operative time (range): 157 (127-259) min. Validated functional questionnaires responses and NIH CP symptom index (NIH-CPSI) score were collected for each patient's status at different time points pre- and post-operatively. Median decreases (range) were: International Prostate Symptom Score - 14 (1-19); Sexual Health Inventory for Men - 6 (-14-22); and NIH-CPSI total - 23.5 (13-33). Median length of follow-up (range) was 34 (24-43) months. RRP appears to be an option for carefully selected patients with medication-refractory CP/CPPS who understand that baseline sexual function may not be restored postoperatively.

  17. Bilateral femoral neck fractures resulting from a grand mal seizure in an elderly man with Down syndrome

    Directory of Open Access Journals (Sweden)

    Jonathan P. Marsh

    2010-03-01

    Full Text Available Simultaneous bilateral hip fractures are exceedingly rare and usually occur following a seizure. To our knowledge, only 22 cases of such injuries have been reported in the literature during the past forty years and the majority of fractures are treated with open reduction and internal fixation. We present a case of a 66-year old man with Down syndrome and severe dementia who was diagnosed with bilateral displaced femoral neck fractures following an epileptic seizure. He was treated with single staged bilateral uncemented monopolar hemi-arthroplasties through lateral Hardinge approaches. The treatment choice was governed by fracture displacement, the lack of pre-existing osteoarthritis, length of time to diagnosis, the patient’s age, ambulatory status and mental impairment, with the intention to minimize post-operative complications such as avascular necrosis, non-union and hip dislocation.

  18. Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

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    Sung-Jin Jeong

    Full Text Available It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS gene, is one of the major constituents of the pial basement membrane (BM and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col3a1 knockout mice, we performed a detailed histological analysis. We observed a cobblestone-like cortical malformation, with BM breakdown and marginal zone heterotopias in Col3a1⁻/⁻ mouse brains. Surprisingly, the pial BM appeared intact at early stages of development but starting as early as embryonic day (E 11.5, prominent BM defects were observed and accompanied by neuronal overmigration. Although collagen III is expressed in meningeal fibroblasts (MFs, Col3a1⁻/⁻ MFs present no obvious defects. Furthermore, the expression and posttranslational modification of α-dystroglycan was undisturbed in Col3a1⁻/⁻ mice. Based on the previous finding that mutations in COL3A1 cause type IV EDS, our study indicates a possible common pathological pathway linking connective tissue diseases and brain malformations.

  19. Successful management of aortic thrombi resulting in spinal cord infarction in a patient with antiphospholipid antibody syndrome and acute cholecystitis.

    Science.gov (United States)

    Izumi, Manabu; Teraoka, Shoko; Yamashita, Keisuke; Matsumoto, Kenji; Muronoi, Tomohiro; Izawa, Yoshimitsu; Yonekawa, Chikara; Ano, Masaki; Suzukawa, Masayuki

    2011-01-01

    A 74-year-old man with coronary artery disease was suffering from acute nonobstructive cholecystitis and was admitted to a nearby hospital. Dual antiplatelet (aspirin and ticlopidine) therapy was discontinued before preparation for surgical resection of the gall bladder. During his time in hospital he was aware of lumbar pain and weakness in both legs. He was transferred to our hospital for further evaluation and therapy. Diffuse intra-aortic thrombi were revealed by computed tomography with contrast media, and magnetic resonance imaging showed spinal cord infarction. However, computed tomography scans of the descending aorta obtained 4 months before admission exhibited no signs of atherosclerotic plaques or intra-aortic thrombi. Laboratory data suggest that antiphospholipid antibody syndrome might have caused these acute multiple intra-arterial thrombi. By restarting dual antiplatelet therapy and increasing the dose of heparin (from 10,000 IU/day to 15,000 IU/day) we successfully managed the patient's clinical condition and symptoms. It is important to understand that stopping antiplatelet therapy may rapidly grow thrombi in patients with a hypercoagulative state.

  20. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

    Science.gov (United States)

    Elsea, Sarah H; Williams, Stephen R

    2011-04-19

    Smith-Magenis syndrome (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies. Diagnostic strategies are focused towards identification of a 17p11.2 microdeletion encompassing the gene RAI1 (retinoic acid induced 1) or a mutation of RAI1. Molecular evidence shows that most SMS features are due to RAI1 haploinsufficiency, whereas variability and severity are modified by other genes in the 17p11.2 region for 17p11.2 deletion cases. The functional role of RAI1 is not completely understood, but it is probably a transcription factor acting in several different biological pathways that are dysregulated in SMS. Functional studies based on the hypothesis that RAI1 acts through phenotype-specific pathways involving several downstream genes have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function. Here, we review the clinical and molecular features of SMS and explore more recent studies supporting possible therapeutic strategies for behavioural management.

  1. The role of life-course socioeconomic and lifestyle factors in the intergenerational transmission of the metabolic syndrome : results from the LifeLines Cohort Study

    NARCIS (Netherlands)

    Klijs, Bart; Angelini, Viola; Mierau, Jochen O.; Smidt, Nynke

    2016-01-01

    Background: The risk of metabolic syndrome is associated between parents and offspring, but studies are inconsistent on differences by sex of parents and offspring. Our aim is to investigate to what extent metabolic syndrome present in fathers and mothers is associated with risk of metabolic syndrom

  2. The role of life-course socioeconomic and lifestyle factors in the intergenerational transmission of the metabolic syndrome : results from the LifeLines Cohort Study

    NARCIS (Netherlands)

    Klijs, Bart; Angelini, Viola; Mierau, Jochen O; Smidt, Nynke

    2016-01-01

    BACKGROUND: The risk of metabolic syndrome is associated between parents and offspring, but studies are inconsistent on differences by sex of parents and offspring. Our aim is to investigate to what extent metabolic syndrome present in fathers and mothers is associated with risk of metabolic syndrom

  3. Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice.

    Science.gov (United States)

    Raud, Sirli; Reimets, Riin; Loomets, Maarja; Sütt, Silva; Altpere, Alina; Visnapuu, Tanel; Innos, Jürgen; Luuk, Hendrik; Plaas, Mario; Volke, Vallo; Vasar, Eero

    2015-08-01

    Wolfram syndrome, induced by mutation in WFS1 gene, increases risk of developing mood disorders in humans. In mice, Wfs1 deficiency cause higher anxiety-like behaviour and increased response to anxiolytic-like effect of diazepam, a GABAA receptor agonist. As GABAergic system is also target for ethanol, we analysed its anxiolytic-like and sedative properties in Wfs1-deficient mice using elevated plus-maze test and tests measuring locomotor activity and coordination, respectively. Additionally loss of righting reflex test was conducted to study sedative/hypnotic properties of ethanol, ketamine and pentobarbital. To evaluate pharmacokinetics of ethanol in mice enzymatic colour test was used. Finally, gene expression of alpha subunits of GABAA receptors following ethanol treatment was studied by real-time-PCR. Compared to wild-types, Wfs1-deficient mice were more sensitive to ethanol-induced anxiolytic-like effect, but less responsive to impairment of motor coordination. Ethanol and pentobarbital, but not ketamine, caused longer duration of hypnosis in Wfs1-deficient mice. The expression of Gabra2 subunit at 30 minutes after ethanol injection was significantly increased in the frontal cortex of Wfs1-deficient mice as compared to respective vehicle-treated mice. For the temporal lobe, similar change in Gabra2 mRNA occurred at 60 minutes after ethanol treatment in Wfs1-deficient mice. No changes were detected in Gabra1 and Gabra3 mRNA following ethanol treatment. Taken together, increased anxiolytic-like effect of ethanol in Wfs1-deficient mice is probably related to altered Gabra2 gene expression. Increased anti-anxiety effect of GABAA receptor agonists in the present work and earlier studies (Luuk et al., 2009) further suggests importance of Wfs1 gene in the regulation of emotional behaviour.

  4. Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients.

    Directory of Open Access Journals (Sweden)

    Jean-David Zeitoun

    Full Text Available BACKGROUND AND OBJECTIVES: Ehlers-Danlos syndromes (EDS are a heterogeneous group of heritable connective tissue disorders. Gastrointestinal manifestations in EDS have been described but their frequency, nature and impact are poorly known. We aimed to assess digestive features in a national cohort of EDS patients. METHODS: A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been formally diagnosed according to the Villefranche criteria. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index, KESS scoring system and the Rome III criteria. RESULTS: Overall, 135 patients (64% response rate completed the questionnaire and 134 were analyzable (123 women; 91%. Mean age and Body Mass Index were respectively 35±14.7 years and 24.3±6.1 kg/m(2. The most common EDS subtype was hypermobility form (n=108; 80.6%. GIQLI and KESS median values were respectively 63.5 (27-117 and 19 [13.5-22]. Eighty four percent of patients had functional bowel disorders (FBD according to the Rome III criteria. An irritable bowel syndrome according to the same criteria was observed in 64 patients (48% and 48 patients (36% reported functional constipation. A gastro-esophageal reflux disease (GERD was reported in 90 patients (68.7%, significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; p<0.0001. GIQLI was also negatively impacted by the presence of an irritable bowel syndrome or functional constipation (p=0.007. There was a significant correlation between FBD and GERD. CONCLUSIONS: Natural frequency of gastrointestinal manifestations in EDS seems higher than previously assessed. FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

  5. Relationship of the area measurement of the large endolymphatic duct and sac syndrome as well as the clinical symptoms with CT and MR imaging results

    Energy Technology Data Exchange (ETDEWEB)

    Park, Ji Sang; Hong, Hyun Sook; Lee, Jong Sea; Kim, Dae Ho; Lee, Hae Kyung; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2008-08-15

    To evaluate the CT and MRI findings of the large endolymphatic duct or sac syndrome (LEDS) and its associated anomalies, with clinical features. We retrospectively reviewed the MR and CT images of 52 ears obtained from 26 patients with LEDS. We reviewed the clinical findings, audiology testing, and treatment results. The degree of hearing loss was classified from normal to profound, based on pure tone audiometry. The largest areas were measured at each endolymphatic duct and analyzed to determine whether a correlation exists with the degree of hearing loss. We also analyzed the differences in measurements between CT and MRI findings. All 26 patients had some degree of sensorineural hearing loss, which resulted in 18 ears to undergo a cochlear implantation. One patient was diagnosed with Cornelia de Lange syndrome. Five patients had a sudden hearing loss onset. Ten ears had incomplete cochlear partitions, whereas 28 ears had enlarged vestibules. All patients had severe to profound hearing loss. We found no statistical correlation between the size of the largest area of the endolymphatic duct and the degree of hearing loss. The mean area of the endolymphatic ducts, as per an MRI examination, revealed slightly greater areas than the CT findings, although the differences were not significant. Enlarged vestibules and incomplete partitions of the cochlea were common anomalies associated with LEDS. We found no statistical correlation between the largest area of the endolymphatic duct or sac with the degree of hearing loss.

  6. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Mewar, R.; Harrison, W.; Weaver, D.D.; Palmer, C.; Davee, M.A.; Overhauser, J.

    1994-08-15

    We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping different portions of chromosome 1. The analyses showed that probes mapping to 1q34-43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 16 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description. 23 refs., 3 figs., 2 tabs.

  7. Clinical Spectrum Time Course in Anti Jo-1 Positive Antisynthetase Syndrome: Results From an International Retrospective Multicenter Study.

    Science.gov (United States)

    Cavagna, Lorenzo; Nuño, Laura; Scirè, Carlo Alberto; Govoni, Marcello; Longo, Francisco Javier Lopez; Franceschini, Franco; Neri, Rossella; Castañeda, Santos; Sifuentes Giraldo, Walter Alberto; Caporali, Roberto; Iannone, Florenzo; Fusaro, Enrico; Paolazzi, Giuseppe; Pellerito, Raffaele; Schwarting, Andreas; Saketkoo, Lesley Ann; Ortego-Centeno, Norberto; Quartuccio, Luca; Bartoloni, Elena; Specker, Christof; Murcia, Trinitario Pina; La Corte, Renato; Furini, Federica; Foschi, Valentina; Corral, Javier Bachiller; Airò, Paolo; Cavazzana, Ilaria; Martínez-Barrio, Julia; Hinojosa, Michelle; Giannini, Margherita; Barsotti, Simone; Menke, Julia; Triantafyllias, Kostantinos; Vitetta, Rosetta; Russo, Alessandra; Bajocchi, Gianluigi; Bravi, Elena; Barausse, Giovanni; Bortolotti, Roberto; Selmi, Carlo; Parisi, Simone; Montecucco, Carlomaurizio; González-Gay, Miguel Angel

    2015-08-01

    Anti Jo-1 antibodies are the main markers of the antisynthetase syndrome (ASSD), an autoimmune disease clinically characterized by the occurrence of arthritis, myositis, and interstitial lung disease (ILD). These manifestations usually co-occur (for practical purpose complete forms) in the same patient, but cases with only 1 or 2 of these findings (for practical purpose incomplete forms) have been described. In incomplete forms, the ex novo occurrence of further manifestations is possible, although with frequencies and timing not still defined. The aim of this international, multicenter, retrospective study was to characterize the clinical time course of anti Jo-1 positive ASSD in a large cohort of patients. Included patients should be anti Jo-1 positive and with at least 1 feature between arthritis, myositis, and ILD. We evaluated the differences between complete and incomplete forms, timing of clinical picture appearance and analyzed factors predicting the appearance of further manifestations in incomplete ASSD. Finally, we collected 225 patients (58 males and 167 females) with a median follow-up of 80 months. At the onset, complete ASSD were 44 and incomplete 181. Patients with incomplete ASSD had frequently only 1 of the classic triad findings (110 cases), in particular, isolated arthritis in 54 cases, isolated myositis in 28 cases, and isolated ILD in 28 cases. At the end of follow-up, complete ASSD were 113, incomplete 112. Only 5 patients had an isolated arthritis, only 5 an isolated myositis, and 15 an isolated ILD. During the follow-up, 108 patients with incomplete forms developed further manifestations. Single main feature onset was the main risk factor for the ex novo appearance of further manifestation. ILD was the prevalent ex novo manifestation (74 cases). In conclusion, ASSD is a condition that should be carefully considered in all patients presenting with arthritis, myositis, and ILD, even when isolated. The ex novo appearance of further

  8. Skeletal and dermatological manifestations of the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years; Skelettale und kutane Charakteristika des naevoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom) Ergebnisse von 8 Patienten aus 12 Jahren. Ergebnisse von 8 Patienten aus 12 Jahren

    Energy Technology Data Exchange (ETDEWEB)

    Rupprecht, M.; Barvencik, F.; Amling, M.; Pogoda, P. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie; Universitaetsklinikum Hamburg-Eppendorf (Germany). Zentrum fuer Biomechanik und Skelettbiologie; Mensing, C.H. [Asklepios Klinik St. Georg, Hamburg (Germany). Eduard-Arning-Klinik fuer Dermatologie und Allergologie; Ittrich, H. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Heiland, M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Zahn-, Mund-, Kiefer- und Gesichtschirurgie; Rueger, J.M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie

    2007-06-15

    Purpose: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150 000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Materials and Methods: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Results: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions (''flame-shaped lucencies''). (orig.)

  9. The Erlangen Dose Optimization trial for low-dose radiotherapy of benign painful elbow syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-03-15

    To evaluate the long-term efficacy of pain reduction by two dose fractionation schedules used for low-dose radiotherapy of painful elbow syndrome. Between February 2006 and February 2010, 199 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 9-57 months). The overall early, delayed and long-term response rates for all patients were 80, 90 and 94 %, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 59.6 ± 20.2 and 55.7 ± 18.0 (p = 0.46); 32.1 ± 24.5 and 34.4 ± 22.5 (p = 0.26); 27.0 ± 27.7 and 23.5 ± 21.6 (p = 0.82) and 10.7 ± 15.0 and 21.5 ± 26.9 (p = 0.12), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 8.7 ± 2.9 and 8.1 ± 3.1 (p = 0.21); 4.5 ± 3.2 and 5.0 ± 3.4 (p = 0.51); 3.9 ± 3.6 and 2.8 ± 2.8 (p = 0.19) and 1.5 ± 2.3 and 2.4 ± 3.5 (p = 0.27), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p = 0.28). Low-dose radiotherapy is an effective treatment for the management of benign painful elbow syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.) [German] Untersuchung der

  10. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  11. A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

    Science.gov (United States)

    Cecconi, Massimiliano; Forzano, Francesca; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola; Faravelli, Francesca; Dagna Bricarelli, Franca; Di Maria, Emilio; Grasso, Marina

    2008-05-01

    The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We describe a novel rare nucleotide substitution within the CGG repeat. The proband was a woman with a positive family history of mental retardation. Southern blot analysis showed an additional band consistent with a deletion in the region detected by the StB12.3 probe. Sequencing of this region revealed a G>C transversion that interrupts the CGG repeat and introduces an EagI site. The same variant was observed in both the healthy son and father of the proband, supporting the hypothesis that the nucleotide substitution is a silent polymorphism, the frequency of which we estimated to be less than 1% in the general population. These findings argue for a pathogenic role of nucleotide variants within the CGG repeat and suggest possible consequences of unexpected findings in the molecular diagnostics of fragile X syndrome. Thus, although the sequence context of a single nucleotide substitution may not predict possible effects on mRNA or protein function, a specific change in the higher order structures of DNA or mRNA may be functionally relevant in the pathological phenotype.

  12. A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

    Science.gov (United States)

    Cecconi, Massimiliano; Forzano, Francesca; Rinaldi, Rosanna; Cappellacci, Sandra; Grammatico, Paola; Faravelli, Francesca; Dagna Bricarelli, Franca; Di Maria, Emilio; Grasso, Marina

    2008-01-01

    The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We describe a novel rare nucleotide substitution within the CGG repeat. The proband was a woman with a positive family history of mental retardation. Southern blot analysis showed an additional band consistent with a deletion in the region detected by the StB12.3 probe. Sequencing of this region revealed a G>C transversion that interrupts the CGG repeat and introduces an EagI site. The same variant was observed in both the healthy son and father of the proband, supporting the hypothesis that the nucleotide substitution is a silent polymorphism, the frequency of which we estimated to be less than 1% in the general population. These findings argue for a pathogenic role of nucleotide variants within the CGG repeat and suggest possible consequences of unexpected findings in the molecular diagnostics of fragile X syndrome. Thus, although the sequence context of a single nucleotide substitution may not predict possible effects on mRNA or protein function, a specific change in the higher order structures of DNA or mRNA may be functionally relevant in the pathological phenotype. PMID:18403614

  13. Risk of Dumping Syndrome after Sleeve Gastrectomy and Roux-en-Y Gastric Bypass: Early Results of a Multicentre Prospective Study.

    Science.gov (United States)

    Ramadan, M; Loureiro, M; Laughlan, K; Caiazzo, R; Iannelli, A; Brunaud, L; Czernichow, S; Nedelcu, M; Nocca, D

    2016-01-01

    Background. Bariatric surgery is an important field of surgery. An important complication of bariatric surgery is dumping syndrome (DS). Aims. To evaluate the incidence of DS in patients undergoing bariatric surgery. Methods. 541 patients included from 5 nutrition and bariatric centers in France underwent either LSG or LRYGB. They were evaluated at 1 month (M1) and 6 months (M6) postoperatively by an interview and completion of a dumping syndrome questionnaire. Results. 268 patients underwent LSG (Group A) and 273 underwent LRYGB. From the LRYGB patients 229 had mechanical gastrojejunoanal anastomosis with 30 mm linear stapler (Group B) and 44 had manual (hand sewn) 15 mm gastrojejunal anastomosis (Group C). Overall incidence of DS was 8.5% at M1 and M6. In LSG group (Group A), only 4 patients (1.49%) reported episodes of DS at M1 and 3 (1.12%) at M6. In Group B, 41 patients (17.90%) reported episodes of DS at M1 and 43 (18.78%) at M6. Group C experienced one case (2.27%) of DS at M1 and none (0%) at M6. Conclusions. Patients undergoing LRYGB, especially with larger gastrojejunal anastomosis, are more prone to developing DS following surgery than patients undergoing LSG or LRYGB with calibrated manual anastomosis.

  14. Urban and rural variation in clustering of metabolic syndrome components in the Thai population: results from the fourth National Health Examination Survey 2009

    Directory of Open Access Journals (Sweden)

    Aekplakorn Wichai

    2011-11-01

    Full Text Available Abstract Background Information on the distribution of Metabolic syndrome (MetS and its combinations by urban/rural areas in lower-middle income countries has been limited. It is not clear how the various combinations of MetS components varied by urban/rural population and if particular combinations of MetS are more common. This study aimed to estimate the prevalence of MetS and combinations of MetS components according to sex and urban/rural areas from a nationally representative sample of Thai adults. Methods Data from the fourth National Health Examination Survey of 19,256 Thai adults aged 20 years and over were analyzed. MetS was defined using the harmonized criteria of six international expert groups with Asian-specific cut-point for waist circumference. Results The prevalence of MetS was 23.2% among adults aged ≥ 20 years (19.5% in men and 26.8% in women. Among men, the prevalence of MetS in urban was higher than those in rural areas (23.1% vs 17.9%, P P Conclusion Metabolic syndrome affects both urban and rural population with different pattern of MetS combinations. Dyslipidemia and obesity were the most common components among women in rural areas, hence, interventions to prevent and control these factors should be strengthened.

  15. Risk of Dumping Syndrome after Sleeve Gastrectomy and Roux-en-Y Gastric Bypass: Early Results of a Multicentre Prospective Study

    Science.gov (United States)

    Laughlan, K.; Caiazzo, R.; Brunaud, L.; Czernichow, S.; Nocca, D.

    2016-01-01

    Background. Bariatric surgery is an important field of surgery. An important complication of bariatric surgery is dumping syndrome (DS). Aims. To evaluate the incidence of DS in patients undergoing bariatric surgery. Methods. 541 patients included from 5 nutrition and bariatric centers in France underwent either LSG or LRYGB. They were evaluated at 1 month (M1) and 6 months (M6) postoperatively by an interview and completion of a dumping syndrome questionnaire. Results. 268 patients underwent LSG (Group A) and 273 underwent LRYGB. From the LRYGB patients 229 had mechanical gastrojejunoanal anastomosis with 30 mm linear stapler (Group B) and 44 had manual (hand sewn) 15 mm gastrojejunal anastomosis (Group C). Overall incidence of DS was 8.5% at M1 and M6. In LSG group (Group A), only 4 patients (1.49%) reported episodes of DS at M1 and 3 (1.12%) at M6. In Group B, 41 patients (17.90%) reported episodes of DS at M1 and 43 (18.78%) at M6. Group C experienced one case (2.27%) of DS at M1 and none (0%) at M6. Conclusions. Patients undergoing LRYGB, especially with larger gastrojejunal anastomosis, are more prone to developing DS following surgery than patients undergoing LSG or LRYGB with calibrated manual anastomosis. PMID:27242898

  16. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  17. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  18. Mesenteric ischemia after capecitabine treatment in rectal cancer and resultant short bowel syndrome is not an absolute contraindication for radical oncological treatment

    Directory of Open Access Journals (Sweden)

    Perpar Ana

    2015-06-01

    Full Text Available Background. Thrombotic events, arterial or venous in origin, still remain a source of substantial morbidity and mortality in cancer patients. The propensity for their development in oncology patients is partially a consequence of the disease itself and partially a result of our attempts to treat it. One of the rarest and deadliest thromboembolic complications is arterial mesenteric ischemia. The high mortality rate is caused by its rarity and by its non-specific clinical presentation, both of which make early diagnosis and treatment difficult. Hence, most diagnoses and treatments occur late in the course of the disease. The issue survivors of arterial mesenteric ischemia may face is short bowel syndrome, which has become a chronic condition after the introduction of parenteral nutrition at home.

  19. Percutaneous tibial nerve stimulation versus electrical stimulation with pelvic floor muscle training for overactive bladder syndrome in women: results of a randomized controlled study

    Science.gov (United States)

    Scaldazza, Carlo Vecchioli; Morosetti, Carolina; Giampieretti, Rosita; Lorenzetti, Rossana; Baroni, Marinella

    2017-01-01

    ABSTRACT Introduction This study compared percutaneous tibial nerve stimulation (PTNS) versus electrical stimulation with pelvic floor muscle training (ES + PFMT) in women with overactive bladder syndrome (OAB). Materials and Methods 60 women with OAB were enrolled. Patients were randomized into two groups. In group A, women underwent ES with PFMT, in group B women underwent PTNS. Results A statistically significant reduction in the number of daily micturitions, episodes of nocturia and urge incontinence was found in the two groups but the difference was more substantial in women treated with PTNS; voided volume increased in both groups. Quality of life improved in both groups, whereas patient perception of urgency improved only in women treated with PTNS. Global impression of improvement revealed a greater satisfaction in patients treated with PTNS. Conclusion This study demonstrates the effectiveness of PTNS and ES with PFMT in women with OAB, but greater improvements were found with PTNS.

  20. [The results of the multicenter pharmaco-epidemiological observational project on the use of mydocalm in the treatment of pain syndromes with the muscle spasm].

    Science.gov (United States)

    Skoromets, A A; Gekht, A B; Galanov, D V; Danilenko, O A; Barantsevich, E R; Lebedeva, A V; Belova, A N; Shprakh, V V; Bogdanov, E I; Prokopenko, S V; Khabirov, F A; Spirin, N N; Baliazin, V A; Miakotnykh, V S; Volkova, L I; Gafurov, B G; Mishchenko, T S; Toktomushev, Ch T; Shyralieva, R K; Musaev, S K; Guseinov, S G

    2015-01-01

    The prospective multicenter open noncomparative pharmaco-epidemiological observational project on the use of mydocalm in real clinical practice has been completed in 2013. The project has been performed in 2090 clinical/rehabilitation settings in 284 cities of 13 countries using the results of 35,383 patients. The project aimed to assess the safety of treatment (percentage of patients with adverse-effects) and pain relieving efficacy as well as patient's satisfaction with the treatment. In total, 6603 (19%) adverse-effects were recorded. Their severity was evaluated as mild in 84,48%, no serious adverse-effects were noted. The high efficacy of mydocalm in the treatment of pain syndromes with the muscle spasm has been demonstrated. The high level of tolerability and absence of the clinically significant increase of adverse effects in the combination with nonsteroidal anti-inflammatory drugs have been confirmed.

  1. Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats.

    Science.gov (United States)

    Liška, František; Peterková, Renata; Peterka, Miroslav; Landa, Vladimír; Zídek, Václav; Mlejnek, Petr; Šilhavý, Jan; Šimáková, Miroslava; Křen, Vladimír; Starker, Colby G; Voytas, Daniel F; Izsvák, Zsuzsanna; Pravenec, Michal

    2016-01-01

    Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome) in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein) gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs) associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR). In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases). SHR ova were microinjected with constructs pTAL438/439 coding for a sequence-specific endonuclease that binds to target sequence in the first coding exon of the Plzf gene. Out of 43 animals born after microinjection, we detected a single male founder. Sequence analysis revealed a deletion of G that resulted in frame shift mutation starting in codon 31 and causing a premature stop codon at position of amino acid 58. The Plzftm1Ipcv allele is semi-lethal since approximately 95% of newborn homozygous animals died perinatally. All homozygous animals exhibited manifestations of a caudal regression syndrome including tail anomalies and serious size reduction and deformities of long bones, and oligo- or polydactyly on the hindlimbs. The heterozygous animals only exhibited the tail anomalies. Impaired development of the urinary tract was also revealed: one homozygous and one heterozygous rat exhibited a vesico-ureteric reflux with enormous dilatation of ureters and renal pelvis. In the homozygote, this was combined with a hypoplastic kidney. These results provide evidence for the important role of Plzf gene during development of the caudal part of a body-column vertebrae, hindlimbs and urinary system in the rat.

  2. Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats

    Science.gov (United States)

    Liška, František; Peterková, Renata; Peterka, Miroslav; Landa, Vladimír; Zídek, Václav; Mlejnek, Petr; Šilhavý, Jan; Šimáková, Miroslava; Křen, Vladimír; Starker, Colby G.; Voytas, Daniel F.; Izsvák, Zsuzsanna; Pravenec, Michal

    2016-01-01

    Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome) in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein) gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs) associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR). In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases). SHR ova were microinjected with constructs pTAL438/439 coding for a sequence-specific endonuclease that binds to target sequence in the first coding exon of the Plzf gene. Out of 43 animals born after microinjection, we detected a single male founder. Sequence analysis revealed a deletion of G that resulted in frame shift mutation starting in codon 31 and causing a premature stop codon at position of amino acid 58. The Plzftm1Ipcv allele is semi-lethal since approximately 95% of newborn homozygous animals died perinatally. All homozygous animals exhibited manifestations of a caudal regression syndrome including tail anomalies and serious size reduction and deformities of long bones, and oligo- or polydactyly on the hindlimbs. The heterozygous animals only exhibited the tail anomalies. Impaired development of the urinary tract was also revealed: one homozygous and one heterozygous rat exhibited a vesico-ureteric reflux with enormous dilatation of ureters and renal pelvis. In the homozygote, this was combined with a hypoplastic kidney. These results provide evidence for the important role of Plzf gene during development of the caudal part of a body—column vertebrae, hindlimbs and urinary system in the rat. PMID:27727328

  3. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  4. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth i

  5. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  6. Posterior Interosseous Nerve Syndrome Resulting from Parosteal Lipoma of the Proximal Radius: An Elusive Diagnosis Yet Excellent Outcome

    Science.gov (United States)

    Saaiq, Muhammad; Siddiui, Saad

    2017-01-01

    A 53-year old man presented with seven months history of progressive weakness of extension of the digits and the thumb of the left hand. The wrist extension was normal and sensations were also intact. The patient had also been noticing a progressively enlarging lump on the lower anterolateral aspect of the left antecubital fossa for the last three months. Physical examination andelectro diagnostic studies revealed motor deficit along the posterior interosseous nerve (PIN) distribution with preservation of sensations. Also a soft tissue solitary lump (measuring 6×5 cm in its greatest dimensions) was palpable in the left antecubital fossa. The magnetic resonance imaging (MRI) of the forearm revealed a well-defined, non-enhancing, homogenous, fat intensity lesion in the left antecubital fossa, attached to the proximal radius. The patient underwent surgical excision of the lump with decompression of the PIN in the radial tunnel. Histopathology confirmed the diagnosis of parosteal lipoma. Although the diagnosis was elusive at the very outset, yet prudent clinical judgment, appropriate ancillary investigations and timely surgical intervention resulted in optimal functional recovery of the hand drop. There was complete motor recovery at 4-months follow up with no recurrence of the lipomaafter one year.

  7. Relationship between the Porcine Stress Syndrome gene and carcass and performance traits in F2 pigs resulting from divergent crosses

    Directory of Open Access Journals (Sweden)

    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian native boars commercial sows and were characterized by PCR-RFLP and their carcass and performance traits were evaluated. Among the 596 animals analyzed, 493 (82.72% were characterized as NN and 103 (17.28% as Nn. With respect to carcass traits, Nn animals presented higher (p < 0.05 right half carcass weight, left half carcass weight, loin depth and loin eye area, and lower shoulder backfat thickness, backfat thickness between last and next to last but one lumbar vertebrae and backfat thickness after last rib at 6.5 cm from the midline compared to NN animals. Nn animals also showed (p < 0.05 higher values for most of the cut yields, indicating higher cutting yields for animals carrying the n allele and lower values for bacon depth, confirming lower fat deposition in carcass. In addition, Nn animals presented (p < 0.05 lower values for the performance trait weight at 105 days of age. These results indicate that animals carrying the PSS gene generate leaner carcasses, higher cut yields, and that the effects of the gene can be observed even in divergent crosses.

  8. Relationship between the Porcine Stress Syndrome gene and pork quality traits of F2 pigs resulting from divergent crosses

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    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian commercial sows and native boars were characterized by PCR-RFLP and the pork quality traits were evaluated. Among the 596 pigs studied, 493 (82.7% were NN and 103 (17.3% were Nn. There were no differences between NN and Nn pigs in the following pork qualities: pHu (5.71 ± 0.16 vs 5.70 ± 0.11, intramuscular fat (1.55 ± 0.64% vs 1.65 ± 0.67%, shear force (5552 ± 878 g/1.2 cm vs 5507 ± 826 g/1.2 cm, lightness (44.96 ± 2.05 vs 45.01 ± 1.92, redness (0.64 ± 0.60 vs 0.79 ± 0.55, yellowness (6.62 ± 0.56 vs 6.65 ± 0.48, hue (84.28 ± 5.53 vs 83.41 ± 4.85, or chroma (6.68 ± 0.52 vs 6.73 ± 0.52. However, pork from Nn pigs had a significantly (p < 0.05 lower pH45 (6.41 ± 0.27 vs 6.51 ± 0.26 and greater drip (3.92 ± 1.90% vs 3.06 ± 1.60%, cooking (33.29 ± 2.26% vs 32.50 ± 2.54% and total (35.67 ± 2.48% vs 34.01 ± 2.58% loss compared to that of NN pigs. These results indicate that, even in divergent crosses, PSS gene carriers produce pork of poorer quality.

  9. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  10. Comportamento da síndrome coronariana aguda: resultados de um registro brasileiro Acute coronary syndrome behavior: results of a Brazilian registry

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    Leopoldo Soares Piegas

    2013-01-01

    ão ajudar a promover um melhor planejamento e manejo do atendimento da síndrome coronariana aguda a nível público e privado.BACKGROUND: Brazil lacks published multicenter registries of acute coronary syndrome. OBJECTIVE: The Brazilian Registry of Acute Coronary Syndrome is a multicenter national study aiming at providing data on clinical aspects, management and hospital outcomes of acute coronary syndrome in our country. METHODS: A total of 23 hospitals from 14 cities, participated in this study. Eligible patients were those who came to the emergency wards with suspected acute coronary syndrome within the first 24 hours of symptom onset, associated with compatible electrocardiographic alterations and/or altered necrosis biomarkers. Follow-up lasted until hospital discharge or death, whichever occurred first. RESULTS: Between 2003 and 2008, 2,693 ACS patients were enrolled, of which 864 (32.1% were females. T he final diagnosis was unstable angina in 1,141 patients, (42.4%, with a mortality rate of 3.06%, non-ST elevation acute myocardial infarction (AMI in 529 (19.6%, with mortality of 6.8%, ST-elevation AMI 950 (35.3%, with mortality of 8.1% and non-confirmed diagnosis 73 (2.7%, with mortality of 1.36%. The overall mortality was 5.53%. The multiple logistic regression model identified the following as risk factors for death regarding demographic factors and interventions: female gender (OR=1.45, diabetes mellitus (OR=1.59, body mass index (OR=1.27 and percutaneous coronary intervention (OR=0.70. A second model for death due to major complications identified: cardiogenic shock/acute pulmonary edema (OR=4.57, reinfarction (OR=3.48, stroke (OR=21.56, major bleeding (OR=3.33, cardiopulmonary arrest (OR=40.27 and Killip functional class (OR=3.37. CONCLUSION: The Brazilian Registry of Acute Coronary Syndrome data do not differ from other data collected abroad. The understanding of their findings may help promote better planning and management of acute coronary syndrome care

  11. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

    Science.gov (United States)

    Gu, Heng; Jiang, Jian-hui; Li, Jian-ying; Zhang, Ya-nan; Dong, Xing-sheng; Huang, Yang-yu; Son, Xin-ming; Lu, Xinyan; Chen, Zheng

    2013-01-01

    Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5)(p13.3p15.33) spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5) (q23;p14.1p15.31),ins(21;5)(q21;p13.3p14.1),ins(21;5)(q21;p15.31p15.33),inv(7)(p22q32)dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5) identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5). Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  12. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

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    Heng Gu

    Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  13. Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation.

    Science.gov (United States)

    Guenou, Hind; Kaabeche, Karim; Dufour, Cécilie; Miraoui, Hichem; Marie, Pierre J

    2006-10-01

    Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). We report here a previously undescribed mechanism involved in the altered osteoblastogenesis in SCS. Cranial osteoblasts from an SCS patient with a Twist mutation causing basic helix-loop-helix deletion exhibited decreased expression of E3 ubiquitin ligase Cbl compared with wild-type osteoblasts. This was associated with decreased ubiquitin-mediated degradation of phosphatidyl inositol 3 kinase (PI3K) and increased PI3K expression and PI3K/Akt signaling. Increased PI3K immunoreactivity was also found in osteoblasts in histological sections of affected cranial sutures from SCS patients. Transfection with Twist or Cbl abolished the increased PI3K/Akt signaling in Twist mutant osteoblasts. Forced overexpression of Cbl did not correct the altered expression of osteoblast differentiation markers in Twist mutant cells. In contrast, pharmacological inhibition of PI3K/Akt, but not ERK signaling, corrected the increased cell growth in Twist mutant osteoblasts. The results show that Twist haploinsufficiency results in decreased Cbl-mediated PI3K degradation in osteoblasts, causing PI3K accumulation and activation of PI3K/Akt-dependent osteoblast growth. This provides genetic and biochemical evidence for a role for Cbl-mediated PI3K signaling in the altered osteoblast phenotype induced by Twist haploinsufficiency in SCS.

  14. CT-guided injection of botulinic toxin for percutaneous therapy of piriformis muscle syndrome with preliminary MRI results about denervative process

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    Fanucci, E.; Masala, S.; Sodani, G.; Varrucciu, V.; Romagnoli, A.; Squillaci, E.; Simonetti, G. [Dept. of Radiology, Univ. of Rome (Italy)

    2001-12-01

    Piriformis muscle syndrome (PMS) is a cause of sciatica, leg or buttock pain and disability. The pain is usually increased by muscular contraction, palpation or prolonged sitting. The aim of our paper was to evaluate the feasibility of CT-guided percutaneous botulinic toxin (BTX) injection for the purpose of PMS treatment. Thirty patients suffering from PMS, suspected with clinical and electrophysiological criteria, after imaging examinations excluding other causes of sciatic pain, resulted positive at the lidocaine test and were treated by intramuscular injection of BTX type A under CT guidance. The follow-up (12 months) was performed with clinical examination in all cases and with MR 3 months after the procedure in 9 patients to evaluate the denervative process entity of the treated muscle. In 26 cases relief of symptoms was obtained after 5-7 days. In 4 patients an insufficient relief of pain justified a second percutaneous treatment which was clinically successful. No complications or side effects were recorded after BTX injection. The MR examination showed a signal intensity change of the treated muscle in 7 patients due to the denervative process of PM, whereas in the remaining 2 cases only an atrophy of the treated muscle was detected. Larger series are necessary to confirm these MRI preliminary results. The CT-guided BTX injection in the PMS is an emergent and feasible technique that obtains an excellent local therapeutic effect without risk of imprecise inoculation. (orig.)

  15. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

    Science.gov (United States)

    Smith, L T; Wertelecki, W; Milstone, L M; Petty, E M; Seashore, M R; Braverman, I M; Jenkins, T G; Byers, P H

    1992-08-01

    Dermatosparaxis is a recessively inherited connective-tissue disorder that results from lack of the activity of type I procollagen N-proteinase, the enzyme that removes the amino-terminal propeptides from type I procollagen. Initially identified in cattle more than 20 years ago, the disorder was subsequently characterized in sheep, cats, and dogs. Affected animals have fragile skin, lax joints, and often die prematurely because of sepsis following avulsion of portions of skin. We recently identified two children with soft, lax, and fragile skin, which, when examined by transmission electron microscopy, contained the twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis. Skin extracts from one child contained collagen precursors with amino-terminal extensions. Cultured fibroblasts from both children failed to cleave the amino-terminal propeptides from the pro alpha 1(I) and pro alpha 2(I) chains in type I procollagen molecules. Extracts of normal cells cleaved to collagen, the type I procollagen synthesized by cells from both children, demonstrating that the enzyme, not the substrate, was defective. These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.

  16. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects.

    Science.gov (United States)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás; Koskela, Antti; Tuukkanen, Juha; Ohlsson, Claes; Rozell, Björn; Eriksson, Maria

    2015-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7 weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS.

  17. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  18. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  19. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  20. Optimal medical therapy for secondary prevention after an acute coronary syndrome: 18-month follow-up results at a tertiary teaching hospital in South Korea

    Directory of Open Access Journals (Sweden)

    Byeon HJ

    2016-02-01

    Full Text Available Hee Ja Byeon,1,* Young-Mo Yang,2,* Eun Joo Choi21Department of Pharmacy, Chosun University Hospital, 2Department of Pharmacy, College of Pharmacy, Chosun University, Gwangju, South Korea*These authors contributed equally to this workBackground: Acute coronary syndrome (ACS is a fatal cardiovascular disease caused by atherosclerotic plaque erosion or rupture and formation of coronary thrombus. The latest guidelines for ACS recommend the combined drug regimen, comprising aspirin, P2Y12 inhibitor, angiotensin-converting enzyme inhibitor or angiotensin II receptor blocker, β-blocker, and statin, at discharge after ACS treatment to reduce recurrent ischemic cardiovascular events. This study aimed to examine prescription patterns of secondary prevention drugs in Korean patients with ACS after hospital discharge, to access the appropriateness of secondary prevention drug therapy for ACS, and to evaluate whether to persistently use discharge medications for 18 months.Methods: This study was retrospectively conducted with the patients who were discharged from the tertiary hospital, located in South Korea, after ACS treatment between September 2009 and August 2013. Data were collected through electronic medical record.Results: Among 3,676 patients during the study period, 494 were selected based on inclusion and exclusion criteria. The regimen of aspirin + clopidogrel + β-blocker + angiotensin-converting enzyme inhibitor/angiotensin II receptor blocker + statin was prescribed to 374 (75.71% patients with ACS at discharge. Specifically, this regimen was used in 177 (69.69% unstable angina patients, 44 (70.97% non-ST-segment elevation myocardial infarction patients, and 153 (85.96% ST-segment elevation myocardial infarction patients. Compared with the number of ACS patients with all five guideline-recommended drugs at discharge, the number of ACS patients using them 12 (n=169, 34.21% and 18 (n=105, 21.26% months after discharge tended to be gradually

  1. Palpable purpura complicated by streptococcal toxic shock syndrome resulting in limb necrosis and amputation: a case of levamisole and cocaine coingestion.

    Science.gov (United States)

    Freyer, Craig W; Peters, Michael

    2012-02-01

    Palpable purpura resulting from cocaine and levamisole coingestion has been reported with increasing frequency over the last several years as distribution of this drug combination becomes more universal. Toxicity from ingestion of this dangerous combination is difficult to diagnose due to the multitude of possible clinical presentations, variety of possible adulterants, and elusive nature of levamisole given its short half-life and limited availability of detection methods. Levamisole is a chemotherapeutic and immunomodulatory agent currently marketed as a veterinary anthelmintic. We describe the case of a 48-year-old woman admitted to our intensive care unit with a diagnosis of streptococcal toxic shock syndrome (STSS), confirmed from fluid taken from an elbow lesion that grew Streptococcus pyogenes. She was noted to have bullae of the elbow and diffuse purpura with necrotic centers covering a large portion of her body (trunk, legs, arms, back, toes, fingers, and tip of nose). On further evaluation, she was found to have ingested levamisole-tainted cocaine. The patient's complications related to either cocaine and levamisole coingestion or STSS included thrombocytopenia, acute renal failure, and limb necrosis. Thrombocytopenia gradually improved upon treatment with prednisone, and acute renal failure improved with intravenous fluid resuscitation; however, she subsequently required several appendage amputations due to severe gangrene. Clinicians must have high suspicion for ingestion of this drug combination and request prompt testing of urine samples for levamisole if a patient who admits to illicit drug use presents with purpuric or necrotic skin lesions.

  2. Validation of an LC-MS/MS Method for Urinary Lactulose and Mannitol Quantification: Results in Patients with Irritable Bowel Syndrome

    Science.gov (United States)

    Gervasoni, Jacopo; Schiattarella, Arcangelo; Giorgio, Valentina; Primiano, Aniello; Russo, Consuelo; Tesori, Valentina; Urbani, Andrea; Zuppi, Cecilia

    2016-01-01

    Aim. Lactulose/mannitol ratio is used to assess intestinal barrier function. Aim of this work was to develop a robust and rapid method for the analysis of lactulose and mannitol in urine by liquid chromatography coupled to tandem mass spectrometry. Lactulose/mannitol ratio has been measured in pediatric patients suffering from irritable bowel syndrome. Methods. Calibration curves and raffinose, used as internal standard, were prepared in water : acetonitrile 20 : 80. Fifty μL of urine sample was added to 450 μL of internal standard solution. The chromatographic separation was performed using a Luna NH2 column operating at a flow rate of 200 μL/min and eluted with a linear gradient from 20% to 80% water in acetonitrile. Total run time is 9 minutes. The mass spectrometry operates in electrospray negative mode. Method was fully validated according to European Medicine Agency guidelines. Results and Conclusions. Linearity ranged from 10 to 1000 mg/L for mannitol and 2.5 to 1000 mg/L for lactulose. Imprecision in intra- and interassay was lower than 15% for both analytes. Accuracy was higher than 85%. Lactulose/mannitol ratio in pediatric patients is significantly higher than that measured in controls. The presented method, rapid and sensitive, is suitable in a clinical laboratory. PMID:28070137

  3. Surgery is more cost-effective than splinting for carpal tunnel syndrome in the Netherlands: results of an economic evaluation alongside a randomized controlled trial

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    Adèr Herman J

    2006-11-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS is a common disorder, often treated with surgery or wrist splinting. The objective of this economic evaluation alongside a randomized trial was to evaluate the cost-effectiveness of splinting and surgery for patients with CTS. Methods Patients at 13 neurological outpatient clinics with clinically and electrophysiologically confirmed idiopathic CTS were randomly allocated to splinting (n = 89 or surgery (n = 87. Clinical outcome measures included number of nights waking up due to symptoms, general improvement, severity of the main complaint, paraesthesia at night and during the day, and utility. The economic evaluation was performed from a societal perspective and involved all relevant costs. Results There were no differences in costs. The mean total costs per patient were in the surgery group EURO 2,126 compared to EURO 2,111 in the splint group. After 12 months, the success rate in the surgery group (92% was significantly higher than in the splint group (72%. The acceptability curve showed that at a relatively low ceiling ratio of EURO 2,500 per patient there is a 90% probability that surgery is cost-effective. Conclusion In the Netherlands, surgery is more cost-effective compared with splinting, and recommended as the preferred method of treatment for patients with CTS.

  4. Chronic alcoholism in the absence of Wernicke-Korsakoff syndrome and cirrhosis does not result in the loss of serotonergic neurons from the median raphe nucleus.

    Science.gov (United States)

    Baker, K G; Halliday, G M; Kril, J J; Harper, C G

    1996-09-01

    Previous studies have identified alcohol, thiamine deficiency and liver disease as contributing to the neuropathology of alcohol-related brain damage. In order to examine the effects of alcohol toxicity and thiamine deficiency on serotonergic neurons in the median raphe nucleus (MnR), alcoholic and previously published Wernicke-Korsakoff syndrome (WKS) cases without liver disease, were compared with age-matched non-alcoholic controls. While there was no difference between the estimated number of serotonergic neurons in either controls or alcoholics without WKS (means of 63,010 +/- 8,900 and 59,560 +/- 8,010 respectively), a substantial loss of serotonergic neurons was previously found in WKS cases (mean of 19,050 +/- 13,140). Further analysis revealed a significant difference in the maximum daily alcohol consumption between these groups. However, analysis of covariance showed that the number or serotonergic neurons in the MnR did not correlate with the amount of alcohol consumed. Therefore, our results suggest that cell loss in the MnR can be attributed to thiamine deficiency rather than alcohol per se.

  5. Review of the results of WT1 peptide vaccination strategies for myelodysplastic syndromes and acute myeloid leukemia from 9 different studies

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    Antonio eDi Stasi

    2015-02-01

    Full Text Available We performed a systematic review of data from seven clinical trials of WT1 peptide vaccination in patients with myelodysplastic syndromes and/or acute myeloid leukemia (MDS/AML, published between 2004 and 2012. A total of fifty-one patients were eligible for analysis. Vaccination with WT1 peptides proved safe and feasible in patients with MDS/AML, in studies from different institutions. Additionally, clinical responses and clinical benefit were observed, with some patients achieving and maintaining remission long term (more than 8 years. A significant correlation between induction of WT1 specific T cells and normalization/reduction of WT1 mRNA levels and progression free survival was noted in a number of studies. However larger studies are warranted to confirm these results. Interestingly, the majority of trials reported the presence of WT1 specific T cells with limited or absent functionality prior to vaccination, which increased in frequency and function after vaccination. In conclusion, WT1 peptide vaccination strategies were safe in this heterogeneous group of patient with MDS/AML. Larger and more homogeneous studies or randomized clinical trials are needed to quantify the contribution of WT1 peptide vaccines to clinical responses and long term survival.

  6. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

    Science.gov (United States)

    Williams, Stephen R; Zies, Deborah; Mullegama, Sureni V; Grotewiel, Michael S; Elsea, Sarah H

    2012-06-08

    Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern. An inverted melatonin rhythm (i.e., melatonin peaks during the day instead of at night) and associated sleep-phase disturbances in individuals with SMS, as well as a short-period circadian rhythm in mice with a chromosomal deletion of Rai1, support SMS as a circadian-rhythm-dysfunction disorder. However, the molecular cause of the circadian defect in SMS has not been described. The circadian oscillator temporally orchestrates metabolism, physiology, and behavior largely through transcriptional modulation. Data support RAI1 as a transcriptional regulator, but the genes it might regulate are largely unknown. Investigation into the role that RAI1 plays in the regulation of gene transcription and circadian maintenance revealed that RAI1 regulates the transcription of circadian locomotor output cycles kaput (CLOCK), a key component of the mammalian circadian oscillator that transcriptionally regulates many critical circadian genes. Data further show that haploinsufficiency of RAI1 and Rai1 in SMS fibroblasts and the mouse hypothalamus, respectively, results in the transcriptional dysregulation of the circadian clock and causes altered expression and regulation of multiple circadian genes, including PER2, PER3, CRY1, BMAL1, and others. These data suggest that heterozygous mutation of RAI1 and Rai1 leads to a disrupted circadian rhythm and thus results in an abnormal sleep-wake cycle, which can contribute to an abnormal feeding pattern and dependent cognitive performance. Finally, we conclude that RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator.

  7. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  8. Evolution of Wernicke-Korsakoff syndrome in self-neglecting alcoholics: preliminary results of relation with Wernicke-delirium and diabetes mellitus.

    Science.gov (United States)

    Wijnia, Jan W; van de Wetering, Ben J M; Zwart, Elles; Nieuwenhuis, K Gerrit A; Goossensen, M Anne

    2012-01-01

    We present a descriptive, retrospective study of initial symptoms, comorbidity, and alcohol withdrawal in 73 alcoholic patients with subsequent Korsakoff syndrome. In 25/73 (35%) of the patients the classic triad of Wernicke's encephalopathy with ocular symptoms, ataxia and confusion, was found. In at least 6/35 (17%) of the initial deliria (95% confidence interval: 10-25%) we observed no other underlying causes, thus excluding other somatic causes, medication, (recent) alcohol withdrawal, or intoxication. We suggest that these deliria may have been representing Wernicke's encephalopathy. A high frequency (15%) of diabetics may reflect a contributing factor of diabetes mellitus in the evolution of the Wernicke-Korsakoff syndrome.

  9. Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.

    Science.gov (United States)

    Dolatshad, H; Pellagatti, A; Fernandez-Mercado, M; Yip, B H; Malcovati, L; Attwood, M; Przychodzen, B; Sahgal, N; Kanapin, A A; Lockstone, H; Scifo, L; Vandenberghe, P; Papaemmanuil, E; Smith, C W J; Campbell, P J; Ogawa, S; Maciejewski, J P; Cazzola, M; Savage, K I; Boultwood, J

    2015-05-01

    The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), particularly in patients with refractory anemia with ring sideroblasts (RARS). We investigated the functional effects of SF3B1 disruption in myeloid cell lines: SF3B1 knockdown resulted in growth inhibition, cell cycle arrest and impaired erythroid differentiation and deregulation of many genes and pathways, including cell cycle regulation and RNA processing. MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34(+) cells from MDS patients with SF3B1 mutations using RNA sequencing. Genes significantly differentially expressed at the transcript and/or exon level in SF3B1 mutant compared with wild-type cases include genes that are involved in MDS pathogenesis (ASXL1 and CBL), iron homeostasis and mitochondrial metabolism (ALAS2, ABCB7 and SLC25A37) and RNA splicing/processing (PRPF8 and HNRNPD). Many genes regulated by a DNA damage-induced BRCA1-BCLAF1-SF3B1 protein complex showed differential expression/splicing in SF3B1 mutant cases. This is the first study to determine the target genes of SF3B1 mutation in MDS CD34(+) cells. Our data indicate that SF3B1 has a critical role in MDS by affecting the expression and splicing of genes involved in specific cellular processes/pathways, many of which are relevant to the known RARS pathophysiology, suggesting a causal link.

  10. Discrepancy between prevalence and perceived effectiveness of treatment methods in myofascial pain syndrome: Results of a cross-sectional, nationwide survey

    Directory of Open Access Journals (Sweden)

    Freiberg Florentina

    2010-02-01

    Full Text Available Abstract Background Myofascial pain is a common dysfunction with a lifetime prevalence affecting up to 85% of the general population. Current guidelines for the management of myofascial pain are not available. In this study we investigated how physicians on the basis of prescription behaviour evaluate the effectiveness of treatment options in their management of myofascial pain. Methods We conducted a cross-sectional, nationwide survey with a standardized questionnaire among 332 physicians (79.8% male, 25.6% female, 47.5 ± 9.6 years experienced in treating patients with myofascial pain. Recruitment of physicians took place at three German meetings of pain therapists, rheumatologists and orthopaedists, respectively. Physicians estimated the prevalence of myofascial pain amongst patients in their practices, stated what treatments they used routinely and then rated the perceived treatment effectiveness on a six-point scale (with 1 being excellent. Data are expressed as mean ± standard deviation. Results The estimated overall prevalence of active myofascial trigger points is 46.1 ± 27.4%. Frequently prescribed treatments are analgesics, mainly metamizol/paracetamol (91.6%, non-steroidal anti-inflammatory drugs/coxibs (87.0% or weak opioids (81.8%, and physical therapies, mainly manual therapy (81.1%, TENS (72.9% or acupuncture (60.2%. Overall effectiveness ratings for analgesics (2.9 ± 0.7 and physical therapies were moderate (2.5 ± 0.8. Effectiveness ratings of the various treatment options between specialities were widely variant. 54.3% of all physicians characterized the available treatment options as insufficient. Conclusions Myofascial pain was estimated a prevalent condition. Despite a variety of commonly prescribed treatments, the moderate effectiveness ratings and the frequent characterizations of the available treatments as insufficient suggest an urgent need for clinical research to establish evidence-based guidelines for the

  11. Validation of the post sleep questionnaire for assessing subjects with restless legs syndrome: results from two double-blind, multicenter, placebo-controlled clinical trials

    Directory of Open Access Journals (Sweden)

    Bharmal Murtuza

    2011-04-01

    Full Text Available Abstract Background Because of the subjective nature of Restless Legs Syndrome (RLS symptoms and the impact of these symptoms on sleep, patient-reported outcomes (PROs play a prominent role as study endpoints in clinical trials investigating RLS treatments. The objective of this study was to validate a new measure, the Post Sleep Questionnaire (PSQ, to assess sleep dysfunction in subjects with moderate-to-severe RLS symptoms. Methods Pooled data were analyzed from two 12-week, randomized, placebo-controlled trials of gabapentin enacarbil (N = 540. At baseline and Week 12, subjects completed the PSQ and other validated health surveys: IRLS Rating Scale, Clinical Global Impression of Improvement (CGI-I, Profile of Mood States (POMS, Medical Outcomes Study Scale-Sleep (MOS-Sleep, and RLS-Quality of Life (RLSQoL. Pooled data were used post hoc to examine the convergent, divergent, known-group validity and the responsiveness of the PSQ. Results Convergent validity was demonstrated by significant correlations between baseline PSQ items and total scores of IRLS, POMS, RLSQoL, and the MOS-Sleep Scale (p ≤ 0.007 each. Divergent validity was demonstrated through the lack of significant correlations between PSQ items and demographic characteristics. Correlations (p Conclusions Although these analyses were potentially limited by the use of clinical trial data and not prospective data from a study conducted solely for validation purposes, the PSQ demonstrated robust psychometric properties and is a valid instrument for assessing sleep and sleep improvements in subjects with moderate-to-severe RLS symptoms. Trial Registration This study analyzed data from two registered trials, NCT00298623 and NCT00365352.

  12. Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.

    Science.gov (United States)

    Braulke, Friederike; Müller-Thomas, Catharina; Götze, Katharina; Platzbecker, Uwe; Germing, Ulrich; Hofmann, Wolf-Karsten; Giagounidis, Aristoteles A N; Lübbert, Michael; Greenberg, Peter L; Bennett, John M; Solé, Francesc; Slovak, Marilyn L; Ohyashiki, Kazuma; Le Beau, Michelle M; Tüchler, Heinz; Pfeilstöcker, Michael; Hildebrandt, Barbara; Aul, Carlo; Stauder, Reinhard; Valent, Peter; Fonatsch, Christa; Bacher, Ulrike; Trümper, Lorenz; Haase, Detlef; Schanz, Julie

    2015-12-01

    In myelodysplastic syndromes (MDS), deletion of the short arm of chromosome 12 (del(12p)) is usually a small abnormality, rarely detected as a single aberration by chromosome banding analysis (CBA) of bone marrow metaphases. Del(12p) has been described in 0.6 to 5% of MDS patients at initial diagnosis and is associated with a good to intermediate prognosis as a sole anomaly according to current scoring systems. Here, we present the results of a systematic del(12p) testing in a German prospective diagnostic study (clinicaltrials.gov: NCT01355913) on 367 MDS patients in whom CD34+ peripheral blood cells were analysed for the presence of del(12p) by sequential fluorescence in situ hybridization (FISH) analyses. A cohort of 2,902 previously published MDS patients diagnosed by CBA served as control. We demonstrate that, using a sensitive FISH technique, 12p deletion occurs significantly more frequently in MDS than previously described (7.6% by CD34+ PB-FISH vs. 1.6% by CBA, P < 0.001) and is often associated with other aberrations (93% by CD34+ PB-FISH vs. 60% by CBA). Additionally, the detection rate can be increased by repeated analyses in a patient over time which is important for the patient´s prognosis to distinguish a sole anomaly from double or complex aberrations. To our knowledge, this is the first study to screen for 12p deletions with a suitable probe for ETV6/TEL in 12p13. Our data suggest that the supplement of a probe for the detection of a 12p deletion to common FISH probe panels helps to avoid missing a del(12p), especially as part of more complex aberrations.

  13. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

    Science.gov (United States)

    Yuan, Bo; Neira, Juanita; Gu, Shen; Harel, Tamar; Liu, Pengfei; Briceño, Ignacio; Elsea, Sarah H; Gómez, Alberto; Potocki, Lorraine; Lupski, James R

    2016-10-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. Nonallelic homologous recombination (NAHR)-mediated recurrent deletions are responsible for the majority of HNPP and SMS cases; the rearrangement products encompass the key dosage-sensitive genes PMP22 and RAI1, respectively, and result in haploinsufficiency for these genes. Less frequently, nonrecurrent genomic rearrangements occur at this locus. Contiguous gene duplications encompassing both PMP22 and RAI1, i.e., PMP22-RAI1 duplications, have been investigated, and replication-based mechanisms rather than NAHR have been proposed for these rearrangements. In the current study, we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Molecular studies utilizing high-resolution array comparative genomic hybridization and breakpoint junction sequencing identified mutational signatures that were suggestive of replication-based mechanisms. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities. Five out of six subjects presented clinical signs and/or objective electrophysiologic studies of peripheral neuropathy. Clinical profiling may improve the clinical management of this unique group of subjects, as the peripheral neuropathy can be more severe or of earlier onset as compared to SMS patients having the common recurrent deletion. Moreover, the current study, in combination with the previous report of PMP22-RAI1 duplications, contributes to the understanding of rare complex phenotypes involving multiple dosage-sensitive genes from a genetic mechanistic standpoint.

  14. Heart rate at discharge and long-term prognosis following percutaneous coronary intervention in stable and acute coronary syndromes - results from the BASKET PROVE trial

    DEFF Research Database (Denmark)

    Jensen, Magnus Thorsten; Kaiser, Christoph; Sandsten, Karl Erik;

    2013-01-01

    Elevated heart rate (HR) is associated with mortality in a number of heart diseases. We examined the long-term prognostic significance of HR at discharge in a contemporary population of patients with stable angina (SAP), non-ST-segment elevation acute coronary syndromes (NSTE-ACS), and ST-segment...

  15. Cardiovascular Risk Factors (Diabetes, Hypertension, Hypercholesterolemia and Metabolic Syndrome) in Older People with Intellectual Disability: Results of the HA-ID Study

    Science.gov (United States)

    de Winter, C. F.; Bastiaanse, L. P.; Hilgenkamp, T. I. M.; Evenhuis, H. M.; Echteld, M. A.

    2012-01-01

    Hypertension, diabetes, hypercholesterolemia and the metabolic syndrome are important risk factors for cardiovascular disease (CVD). In older people with intellectual disability (ID), CVD is a substantial morbidity risk. The aims of the present study, which was part of the Healthy Ageing in Intellectual Disability (HA-ID) study, were (1) to…

  16. Elevated CXCL-8 expression in bronchoalveolar lavage correlates with disease severity in patients with acute respiratory distress syndrome resulting from tuberculosis

    NARCIS (Netherlands)

    Hashemian, Seyed Mohamad Reza; Mortaz, Esmaeil; Tabarsi, Payam; Jamaati, Hamidreza; Maghsoomi, Zohreh; Khosravi, Adnan; Garssen, Johan; Masjedi, Mohamad Reza; Velayati, Ali Akbar; Folkerts, Gert; Barnes, Peter J; Adcock, Ian M

    2014-01-01

    BACKGROUND: Tuberculosis (TB) is a rare but known cause of acute respiratory distress syndrome (ARDS). The role of inflammatory cytokines in the progression of ARDS in TB patients is unknown. OBJECTIVES: In this study we investigated the possible link between the levels of inflammatory cytokines in

  17. Puberty induction in Turner syndrome: Results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels

    NARCIS (Netherlands)

    Bannink, E.M.N.; Sassen, C. van; Buuren, S. van; Jong, F.H. de; Lequin, M.; Mulder, P.G.H.; Muinck Keizer-Schrama, S.M.P.F. de

    2009-01-01

    Background: Besides short stature, gonadal dysgenesis leading to a lack of oestrogen is one of the main characteristics of Turner syndrome (TS). In most TS girls, puberty is induced with exogenous oestrogens. Objective: To describe the pubertal development and uterine dimensions achieved by low-dose

  18. Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome: A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language

    Science.gov (United States)

    Steinman, Kyle; Ross, Judith; Lai, Song; Reiss, Allan; Hoeft, Fumiko

    2009-01-01

    Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the…

  19. GLP-2 administration results in increased proliferation but paradoxically an adverse outcome in a juvenile piglet model of short bowel syndrome

    DEFF Research Database (Denmark)

    Pereira-Fantini, Prue M; Nagy, Eva S; Thomas, Sarah L;

    2008-01-01

    OBJECTIVE: The objective of the present study was to examine the effect of glucagon-like peptide-2 (GLP-2) administration in a piglet, juvenile model of short bowel syndrome. MATERIALS AND METHODS: Four-week-old piglets underwent either a sham operation or 75% small bowel resection. Postoperative...

  20. Effect of a nurse-coordinated prevention programme on cardiovascular risk after an acute coronary syndrome: main results of the RESPONSE randomised trial

    NARCIS (Netherlands)

    Jorstad, Harald T.; Birgelen, von Clemens; Alings, A. Marco W.; Liem, Anho; Dantzig, van Jan Melle; Jaarsma, Wiebe; Lok, Dirk J.A.; Kragten, Hans J.A.; Vries, de Keesjan; Milliano, Paul A.R.; Withagen, Adrie J.A.M.; Scholte op Reimer, Wilma J.M.; Tijssen, Jan G.P.; Peters, Ron J.G.

    2013-01-01

    Objective To quantify the impact of a practical, hospital-based nurse-coordinated prevention programme on cardiovascular risk, integrated into the routine clinical care of patients discharged after an acute coronary syndrome, as compared with usual care only. Design RESPONSE (Randomised Evaluatio

  1. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  2. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  3. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  4. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  5. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  6. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  7. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  8. Results of a randomized, double-blind study of romiplostim versus placebo in patients with low/intermediate-1–risk myelodysplastic syndrome and thrombocytopenia

    Science.gov (United States)

    Giagounidis, Aristoteles; Mufti, Ghulam J; Fenaux, Pierre; Sekeres, Mikkael A; Szer, Jeffrey; Platzbecker, Uwe; Kuendgen, Andrea; Gaidano, Gianluca; Wiktor-Jedrzejczak, Wieslaw; Hu, Kuolung; Woodard, Paul; Yang, Allen S; Kantarjian, Hagop M

    2014-01-01

    BACKGROUND Thrombocytopenia in patients with myelodysplastic syndrome (MDS) is associated with shortened survival and an increased risk of evolution to acute myeloid leukemia (AML). In this study, the authors evaluated the efficacy of romiplostim in patients who had thrombocytopenia with low-risk/intermediate-1–risk MDS. METHODS Patients who had thrombocytopenia with low-risk/intermediate-1–risk MDS (N = 250) were randomized 2:1 to receive romiplostim or placebo weekly for 58 weeks. RESULTS The primary endpoint— the number of clinically significant bleeding events (CSBEs) per patient—had a hazard ratio for romiplostim:placebo of 0.83 (95% confidence interval, 0.66-1.05; P = .13). CSBEs were reduced significantly in the romiplostim group for patients who had baseline platelet counts ≥20 × 109/L (P < .0001). For patients who had baseline platelet counts <20 × 109/L, there was no difference in the number of CSBEs, but the platelet transfusion rates were higher in the placebo group (P < .0001), which may have affected the overall CSBE results in this group with severe thrombocytopenia. The incidence of bleeding events was reduced significantly in the romiplostim group (relative risk, 0.92), as were protocol-defined platelet transfusions (relative risk, 0.77). Platelet response rates according to 2006 International Working Group criteria were higher for the group that received romiplostim (odds ratio, 15.6). On the basis of interim data, an independent data monitoring committee advised halting study drug because of concerns regarding excess blasts and AML rates with romiplostim (interim hazard ratio, 2.51). At 58 weeks, the AML rates were 6% in the romiplostim group and 4.9% in the placebo group (hazard ratio, 1.20; 95% confidence interval, 0.38-3.84), and the overall survival rates were similar. CONCLUSIONS Romiplostim treatment in patients with low-risk/intermediate-1–risk MDS increased platelet counts and decreased the number of

  9. Efficacy and safety of a single botulinum type A toxin complex treatment (Dysport) for the relief of upper back myofascial pain syndrome: results from a randomized double-blind placebo-controlled multicentre study.

    Science.gov (United States)

    Göbel, Hartmut; Heinze, Axel; Reichel, Gerhard; Hefter, Harald; Benecke, Reiner

    2006-11-01

    Botulinum type A toxin (BoNT-A) has antinociceptive and muscle-relaxant properties and may help relieve the symptoms of myofascial pain syndrome. In this study we evaluated the efficacy and tolerability of BoNT-A (Dysport) in patients with myofascial pain syndrome of the upper back. We conducted a prospective, randomized, double-blind, placebo-controlled, 12-week, multicentre study. Patients with moderate-to-severe myofascial pain syndrome affecting cervical and/or shoulder muscles (10 trigger points, disease duration 6-24 months) were randomized to Dysport or saline. Injections were made into the 10 most tender trigger points (40 units per site). The primary outcome was the proportion of patients with mild or no pain at week 5. Secondary outcomes included changes in pain intensity and the number of pain-free days per week. Tolerability and safety were also assessed. At week 5, significantly more patients in the Dysport group reported mild or no pain (51%), compared with the patients in the placebo group (26%; p=0.002). Compared with placebo, Dysport resulted in a significantly greater change from baseline in pain intensity during weeks 5-8 (ppain between weeks 5 and 12 (p=0.036). Treatment was well tolerated, with most side effects resolving within 8 weeks. In conclusion, in patients with upper back myofascial pain syndrome, injections of 400 Ipsen units of Dysport at 10 individualised trigger points significantly improved pain levels 4-6 weeks after treatment. Injections were well tolerated.

  10. Association study of Val66Met polymorphism in brain-derived neurotrophic factor gene with clozapine-induced metabolic syndrome: preliminary results.

    Directory of Open Access Journals (Sweden)

    Yi Zhang

    Full Text Available The prevalence of the metabolic syndrome (MetS is higher among patients receiving atypical antipsychotics (AAPs treatment, and even among AAPs, treatment with clozapine has been shown to be associated with a higher long-term incidence rate of MetS. Likewise, brain-derived neurotrophic factor (BDNF deficiency has been reported to result in metabolic traits, such as increased food intake, hyperphagia and obesity, etc. In this study, we hypothesized that a functional polymorphism (Val66Met in the BDNF gene may confer susceptibility to clozapine-induced MetS, potentially in a sex-specific manner, since an interaction between Val66Met polymorphism and sex was observed in our previous studies. A total of 199 schizophrenia patients being treated with clozapine were divided into two groups, MetS and non-MetS, based on the diagnostic criteria of the National Cholesterol Education Program's Adult Treatment Panel III. We genotyped the Val66Met polymorphism, and measured the serum levels of fasting glucose (GLU, triglyceride (TG and high density lipoprotein cholesterol (HDL. There was a trend indicating a significant association between the homozygous Met/Met genotype and MetS in male patients (OR = 2.39; 95% CI: 1.05-5.41; p = 0.039; corrected p = 0.078. Among the six risk factors listed in the ATPIII criteria, we found a significant association between fasting GLU levels and Val66Met polymorphism in males (p = 0.005; corrected p = 0.03, but not in females (p = 0.65. Post-hoc analysis in males revealed that the Met/Met carriers had significant higher levels of fasting GLU than those with Val/Val or Val/Met genotypes (p = 0.007; corrected p = 0.042 and p = 0.002; corrected p = 0.012, respectively. In conclusion, we observed a weak association between the Val66Met polymorphism and clozapine-induced MetS in a sex-specific manner. While preliminary, such findings prompt further, large-scale longitudinal studies to

  11. Preliminary results: surveillance for Guillain-Barré syndrome after receipt of influenza A (H1N1) 2009 monovalent vaccine - United States, 2009-2010.

    Science.gov (United States)

    2010-06-01

    Guillain-Barré syndrome (GBS) is an uncommon peripheral neuropathy causing paralysis and in severe cases respiratory failure and death. GBS often follows an antecedent gastrointestinal or upper respiratory illness but, in rare cases, can follow vaccination. In 1976, vaccination against a novel swine-origin influenza A (H1N1) virus was associated with a statistically significant increased risk for GBS in the 42 days after vaccination (approximately 10 excess cases per 1 million vaccinations), a consideration in halting the vaccination program in the context of limited influenza virus transmission. To monitor influenza A (H1N1) 2009 monovalent vaccine safety, several federal surveillance systems, including CDC's Emerging Infections Program (EIP), are being used. In October 2009, EIP began active surveillance to assess the risk for GBS after 2009 H1N1 vaccination. Preliminary results from an analysis in EIP comparing GBS patients hospitalized through March 31, 2010, who did and did not receive 2009 H1N1 vaccination showed an estimated age-adjusted rate ratio of 1.77 (GBS incidence of 1.92 per 100,000 person-years among vaccinated persons and 1.21 per 100,000 person-years among unvaccinated persons). If end-of-surveillance analysis confirms this finding, this would correspond to 0.8 excess cases of GBS per 1 million vaccinations, similar to that found in seasonal influenza vaccines. No other federal system to date has detected a statistically significant association between GBS and 2009 H1N1 vaccination. Surveillance and further analyses are ongoing. The 2009 H1N1 vaccine safety profile is similar to that for seasonal influenza vaccines, which have an excellent safety record. Vaccination remains the most effective method to prevent serious illness and death from 2009 H1N1 influenza infection; illness from the 2009 H1N1 influenza virus has been associated with a hospitalization rate of 222 per 1 million and a death rate of 9.7 per 1 million population.

  12. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  13. Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial

    OpenAIRE

    Kuppens, R. J.; Mahabier, E. F.; Bakker, N. E.; Siemensma, E. P. C.; Donze, S.H.; Hokken-Koelega, A. C. S.

    2016-01-01

    Background Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH) might deteriorate their GH-induced improved cognition, while continuation might benefit them. We, therefore, investigated the effects of placebo versus GH administration on cognition in young adults with PWS who...

  14. Results from the International Consensus Conference on Myo-inositol and d-chiro-inositol in Obstetrics and Gynecology: the link between metabolic syndrome and PCOS.

    Science.gov (United States)

    Facchinetti, Fabio; Bizzarri, Mariano; Benvenga, Salvatore; D'Anna, Rosario; Lanzone, Antonio; Soulage, Christophe; Di Renzo, Gian Carlo; Hod, Moshe; Cavalli, Pietro; Chiu, Tony T; Kamenov, Zdravko A; Bevilacqua, Arturo; Carlomagno, Gianfranco; Gerli, Sandro; Oliva, Mario Montanino; Devroey, Paul

    2015-12-01

    In recent years, interest has been focused to the study of the two major inositol stereoisomers: myo-inositol (MI) and d-chiro-inositol (DCI), because of their involvement, as second messengers of insulin, in several insulin-dependent processes, such as metabolic syndrome and polycystic ovary syndrome. Although these molecules have different functions, very often their roles have been confused, while the meaning of several observations still needs to be interpreted under a more rigorous physiological framework. With the aim of clarifying this issue, the 2013 International Consensus Conference on MI and DCI in Obstetrics and Gynecology identified opinion leaders in all fields related to this area of research. They examined seminal experimental papers and randomized clinical trials reporting the role and the use of inositol(s) in clinical practice. The main topics were the relation between inositol(s) and metabolic syndrome, polycystic ovary syndrome (with a focus on both metabolic and reproductive aspects), congenital anomalies, gestational diabetes. Clinical trials demonstrated that inositol(s) supplementation could fruitfully affect different pathophysiological aspects of disorders pertaining Obstetrics and Gynecology. The treatment of PCOS women as well as the prevention of GDM seem those clinical conditions which take more advantages from MI supplementation, when used at a dose of 2g twice/day. The clinical experience with MI is largely superior to the one with DCI. However, the existence of tissue-specific ratios, namely in the ovary, has prompted researchers to recently develop a treatment based on both molecules in the proportion of 40 (MI) to 1 (DCI).

  15. Fluvastatin in the first-line therapy of acute coronary syndrome: results of the multicenter, randomized, double-blind, placebo-controlled trial (the FACS-trial)

    OpenAIRE

    Telekes Peter; Holm Frantisek; Slaby Josef; Aschermann Ondrej; Wiendl Martin; Kettner Jiri; Kvapil Milan; Mates Martin; Hajek Petr; Macek Milan; Kukacka Jiri; Vejvoda Jiri; Alan David; Ostadal Petr; Horak David

    2010-01-01

    Abstract Background Statins have been proved to be effective in reduction of mortality and morbidity when started in the early secondary prevention in stabilized patients after acute coronary syndrome (ACS). The safety and efficacy of statin administration directly in the first-line therapy in unstable ACS patients is not clear. The aim of our study was, therefore, to assess the effect of statin treatment initiated immediately at hospital admission of patients with ACS. Methods The trial was ...

  16. Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study

    OpenAIRE

    2016-01-01

    Background As data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients. Methods EXPLAIN-FXS is a prospective observational (non-interventional) study (registry) performed between April 2013 and January 2016 at 18 sites in Germany. Requirements for patient participation included confirmed diagnosis of FXS by genetic testing (>200 CGG rep...

  17. Fat embolism syndrome

    OpenAIRE

    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.

    1997-01-01

    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  18. [Excretory azoospermia: Young's syndrome].

    Science.gov (United States)

    Arrufat, J M; Cervelló, E; Albella, F

    1980-01-01

    The authors present a case of excretory azoospermia, whose deferentovesiculography and surgical exploration of the epididymis were normal. The patient presented bronchio-estasis and sinusitis as a result of which he was diagnosed as suffering from Young's syndrome. The authors make a review of the current state of the problem stressing the differences between Young's syndrome and immobile cilia syndrome described by Eliasson and colls.

  19. Refeeding syndrome: a clinical review.

    Science.gov (United States)

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  20. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  1. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  2. Trauma induced eagle syndrome.

    Science.gov (United States)

    Koivumäki, A; Marinescu-Gava, M; Järnstedt, J; Sándor, G K; Wolff, J

    2012-03-01

    Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal and/or the external carotid arteries and their perivascular sympathetic fibres, resulting in a persistent pain radiating throughout the carotid territory. The pathogenesis of the syndrome is not understood. The authors report the case of a 52-year-old woman with post traumatic Eagle syndrome-like pain and pseudoarthrosis of the stylohyoid ligament.

  3. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

    Science.gov (United States)

    Burns, Brooke; Schmidt, Kristie; Williams, Stephen R; Kim, Sun; Girirajan, Santhosh; Elsea, Sarah H

    2010-10-15

    Smith-Magenis syndrome (SMS) is a genetic disorder caused by haploinsufficiency of the retinoic acid induced 1 (RAI1) gene. In addition to intellectual disabilities, behavioral abnormalities and sleep disturbances, a majority of children with SMS also have significant early-onset obesity. To study the role of RAI1 in obesity, we investigated the growth and obesity phenotype in a mouse model haploinsufficient for Rai1. Data show that Rai1(+/-) mice are hyperphagic, have an impaired satiety response and have altered abdominal and subcutaneous fat distribution, with Rai1(+/-) female mice having a higher proportion of abdominal fat when compared with wild-type female mice. Expression analyses revealed that Bdnf (brain-derived neurotrophic factor), a gene previously associated with hyperphagia and obesity, is downregulated in the Rai1(+/-) mouse hypothalamus, and reporter studies show that RAI1 directly regulates the expression of BDNF. Even though the Rai1(+/-) mice are significantly obese, serum analyses do not reveal any evidence of metabolic syndrome. Supporting these findings, a caregiver survey revealed that even though a high incidence of abdominal obesity is observed in females with SMS, they did not exhibit a higher incidence of indicators of metabolic syndrome above the general population. We conclude that Rai1 haploinsufficiency represents a single-gene model of obesity with hyperphagia, abnormal fat distribution and altered hypothalamic gene expression associated with satiety, food intake, behavior and obesity. Linking RAI1 and BDNF provides a more thorough understanding of the role of Rai1 in growth and obesity and insight into the complex pathogenicity of obesity, behavior and sex-specific differences in adiposity.

  4. Endoscopic bursectomy and iliotibial tract release as a treatment for refractory greater trochanteric pain syndrome: a new endoscopic approach with early results.

    Science.gov (United States)

    Govaert, Louise H M; van Dijk, C Niek; Zeegers, Adelgunde V C M; Albers, Gerardus H R

    2012-12-01

    Greater trochanteric pain syndrome (GTPS) is associated with excessive tension between the iliotibial band (ITB) and the greater trochanter. Several endoscopic procedures have been reported, but in most cases the endoscopic approach only consists of a bursectomy. The ITB and fascia lata act as a lateral tension band to resist tensile strains on the concave aspect of the femur and are often implicated as the source of GTPS. We therefore believe that the ITB must be addressed. We describe an endoscopic technique to release the ITB and remove the bursa and conclude that endoscopic bursectomy with cross incision of the ITB is a safe approach to treat patients with refractory GTPS.

  5. Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial

    OpenAIRE

    Sas, Theo; Otten, Barto; Hoorweg-Nijman, J.J.; Vulsma, Thomas; Drop, Stenvert; Massa, G.G.; Rouwé, Catrienus; Rongen-Westerlaken, C; Reeser, Maarten; Gosen, J.J.; Gerver, W J; Muinck Keizer-Schrama, Sabine; Stijnen, Theo; Jansen, Maarten

    1999-01-01

    textabstractShort stature and ovarian failure are the main features in Turner syndrome (TS). To optimize GH and estrogen treatment, we studied 68 previously untreated girls with TS, age 2-11 yr, who were randomly assigned to one of three GH dosage groups: group A, 4 IU/m2 day (approximately 0.045 mg/kg x day); group B, first yr 4, thereafter 6 IU/m2 x day (approximately 0.0675 mg/kg/day); group C, first yr 4, second yr 6, thereafter 8 IU/m2 x day (approximately 0.090 mg/kg x day). In the firs...

  6. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  7. Syndromic approach to treatment of snake bite in Sri Lanka based on results of a prospective national hospital-based survey of patients envenomed by identified snakes.

    Science.gov (United States)

    Ariaratnam, Christeine A; Sheriff, Mohamed H Rezvi; Arambepola, Carukshi; Theakston, R David G; Warrell, David A

    2009-10-01

    Of 860 snakes brought to 10 hospitals in Sri Lanka with the patients they had bitten, 762 (89%) were venomous. Russell's vipers (Daboia russelii) and hump-nosed pit vipers (Hypnale hypnale) were the most numerous and H. hypnale was the most widely distributed. Fifty-one (6%) were misidentified by hospital staff, causing inappropriate antivenom treatment of 13 patients. Distinctive clinical syndromes were identified to aid species diagnosis in most cases of snake bite in Sri Lanka where the biting species is unknown. Diagnostic sensitivities and specificities of these syndromes for envenoming were 78% and 96% by Naja naja, 66% and 100% by Bungarus caeruleus, 14% and 100% by Daboia russelii, and 10% and 97% by Hypnale hypnale, respectively. Although only polyspecific antivenoms are used in Sri Lanka, species diagnosis remains important to anticipate life-threatening complications such as local necrosis, hemorrhage and renal and respiratory failure and to identify likely victims of envenoming by H. hypnale who will not benefit from existing antivenoms. The technique of hospital-based collection, labeling and preservation of dead snakes brought by bitten patients is recommended for rapid assessment of a country's medically-important herpetofauna.

  8. Review of the refeeding syndrome.

    Science.gov (United States)

    Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

    2005-12-01

    Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

  9. Surgical fasciectomy of the trapezius muscle combined with neurolysis of the Spinal accessory nerve; results and long-term follow-up in 30 consecutive cases of refractory chronic whiplash syndrome

    Directory of Open Access Journals (Sweden)

    Freeman Michael

    2010-04-01

    Full Text Available Abstract Background Chronic problems from whiplash trauma generally include headache, pain and neck stiffness that may prove refractory to conservative treatment modalities. As has previously been reported, such afflicted patients may experience significant temporary relief with injections of local anesthetic to painful trigger points in muscles of the shoulder and neck, or lasting symptomatic improvement through surgical excision of myofascial trigger points. In a subset of patients who present with chronic whiplash syndrome, the clinical findings suggest an affliction of the spinal accessory nerve (CN XI, SAN by entrapment under the fascia of the trapezius muscle. The present study was undertaken to assess the effectiveness of SAN neurolysis in chronic whiplash syndrome. Methods A standardized questionnaire and a linear visual-analogue scale graded 0-10 was used to assess disability related to five symptoms (pain, headache, insomnia, weakness, and stiffness before, and one year after surgery in a series of thirty consecutive patients. Results The preoperative duration of symptoms ranged from seven months to 13 years. The following changes in disability scores were documented one year after surgery: Overall pain decreased from 9.5 +/- 0.9 to 3.2 +/- 2.6 (p Conclusions Entrapment of the spinal accessory nerve and/or chronic compartment syndrome of the trapezius muscle may cause chronic debilitating pain after whiplash trauma, without radiological or electrodiagnostic evidence of injury. In such cases, surgical treatment may provide lasting relief.

  10. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES) 2001–2008

    Science.gov (United States)

    2013-01-01

    Background Avocados contain monounsaturated fatty acids (MUFA) dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado consumption and nutrition data were based on 24-hour dietary recalls collected by trained NHANES interviewers using the USDA Automated Multiple Pass Method (AMPM). Physiological data were collected from physical examinations conducted in NHANES Mobile Examination Centers. Diet quality was calculated using the USDA’s Healthy Eating Index-2005. Subjects included 17,567 US adults  ≥ 19 years of age (49% female), including 347 avocado consumers (50% female), examined in NHANES 2001–2008. Least square means, standard errors, and ANOVA were determined using appropriate sample weights, with adjustments for age, gender, ethnicity, and other covariates depending on dependent variable of interest. Results Avocado consumers had significantly higher intakes of vegetables (p avocado consumers. The odds ratio for metabolic syndrome was 50% (95th CI: 0.32-0.72) lower in avocado consumers vs. non-consumers. Conclusions Avocado consumption is associated with improved overall diet quality, nutrient intake, and reduced risk of metabolic syndrome. Dietitians should be aware of the beneficial associations between avocado intake, diet and health when making dietary recommendations. PMID:23282226

  11. Drug-Induced QT Prolongation as a Result of an Escitalopram Overdose in a Patient with Previously Undiagnosed Congenital Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Paul Singh

    2014-01-01

    Full Text Available We present a case of drug-induced QT prolongation caused by an escitalopram overdose in a patient with previously undiagnosed congenital LQTS. A 15-year-old Caucasian female presented following a suicide attempt via an escitalopram overdose. The patient was found to have a prolonged QT interval with episodes of torsades de pointes. The patient was admitted to the telemetry unit and treated. Despite the resolution of the torsades de pointes, she continued to demonstrate a persistently prolonged QT interval. She was seen by the cardiology service and diagnosed with congenital long QT syndrome. This case illustrates the potential for an escitalopram overdose to cause an acute QT prolongation in a patient with congenital LQTS and suggests the importance of a screening electrocardiogram prior to the initiation of SSRIs, especially in patients at high risk for QT prolongation.

  12. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  13. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  14. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  15. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  16. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  17. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  18. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  19. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  1. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  2. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  3. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  4. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  5. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  6. [The refeeding syndrome].

    Science.gov (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H

    2015-01-01

    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  7. Familial pituitary tumor syndromes.

    Science.gov (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G

    2009-08-01

    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  8. Eagle syndrome: case report.

    Science.gov (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin

    2013-01-01

    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  9. [Orbitofrontal syndrome in psychiatry].

    Science.gov (United States)

    Murad, A

    1999-01-01

    Orbitofrontal syndrome is a variant of frontal lobe syndrome in which behavioural disturbances are prevailing. It results from bilateral lesions of the orbitofrontal cortex and the medial face of frontal lobe. Patients present disorganized hyperactivity. They are distractable, impulsive, euphoric and unable to abide by social rules. They often have instinctive disinhibition (hypersexuality, hyperphagia and urinary behaviour disorders). In spite of severe behavioural disturbances cognitive functions are often intact so that orbitofrontal syndrome may be confounded with two psychiatric disorders: mania (or hypomania) and antisocial personality disorder. In this article we present a case report of orbitofrontal syndrome which was initially misdiagnosed as mania. Clinical features and possible modes of presentation of this syndrome are discussed. It is suggested that serotonin reuptake inhibitors may be of some use in this disorder.

  10. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  11. Fundus examination results 68 cases of infant nystagmus syndrome%婴儿眼球震颤综合征68例眼底检查结果分析

    Institute of Scientific and Technical Information of China (English)

    程海霞; 周青

    2016-01-01

    Objective To evaluate the necessity of infant nystagmus syndrome with fundus examination.Methods A retrospective analysis of 68 cases of fundus examination of infant nystagrnus syndrome,summarize the clinical experience.Results Of 68 cases infant nystagmus syndrome,strabismus had 7 cases,in which exotropia 4 cases,esotropia 3 cases.Retcam3 examination revealed 19 cases of ocular abnormalities:4 cases of congenital cataracts;ocular albinism 3 cases;3 cases of hyperplasia primary vitreous;familial exudative vitreoretinopathy two cases;congenital choroidal coloboma 2 cases;congenital microphthalmia 2 cases;optic atrophy 2 cases and 1 case morning glory syndrome.Conclusions Infantile nystagrnus syndrome is often accompanied by retinal abnormalities,Retcam3 can be used for infant eye screening.%目的 探讨婴儿眼球震颤综合征患儿眼底检查的必要性.方法 回顾性分析在南京市儿童医院眼科门诊2013年1月至2014年12月期间68例婴儿眼球震颤综合征Retcam3检查结果,总结临床经验.结果 68例先天性眼球震颤婴幼儿中斜视患儿7例,其中外斜视4例,内斜3例.经散瞳后Ret-cam3检查发现眼部异常19例:先天性白内障4例5只眼;眼型白化病3例;原始永存玻璃体增生症3例;家族型渗出性脉络膜视网膜病变2例;脉络膜缺损2例;小眼球2例;视神经萎缩2例;牵牛花综合征1例.结论 婴儿眼球震颤综合征患儿常伴有眼底的异常,Retcam3可用于婴幼儿眼病筛查.

  12. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  13. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

    Science.gov (United States)

    Jelena, Brezo; Christina, Lam; Eric, Vilain; Fabiola, Quintero-Rivera

    2014-06-01

    Waardenburg syndrome (WS) is a neurocristopathy characterized by pigmentation abnormalities of the skin, hair, and iris, as well as sensorineural hearing loss. Contiguous gene deletions encompassing SOX10 are rare, which limits conclusions about genotype-phenotype correlation regarding patient prognosis and management. This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. The patient presented with developmental delay, profound bilateral sensorineural hearing loss, heterochromia iridis, hypotonia, and bilateral finger contractures. Published genomic and phenotypic profiles of patients with SOX10-encompassing deletions point toward several plausible candidate gene that could account for the considerable clinical heterogeneity. These studies suggest the existence of modifiers among the co-deleted, dosage-sensitive genes (e.g., MYH9) and among genes whose effect may depend on the unmasking of recessive mutations (e.g., PLA2G6). Finally, we highlight evidence illustrating extensive interconnectivity of SOX10-hypothesizing that haploinsufficiency of SOX10 may "unmask" subtler effects on expression or epistasis associated with variants in SOX10 targets (e.g., DHH), in its partners (e.g., PAX3, EGR2), and in genes with functional overlap (e.g., SOX8, SOX9).

  14. Efficacy of Danlou Tablet in Patients with Non-ST Elevation Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention: Results from a Multicentre, Placebo-Controlled, Randomized Trial

    Directory of Open Access Journals (Sweden)

    Lei Wang

    2016-01-01

    Full Text Available This study seeks to investigate potential cardioprotection of Danlou Tablets in patients undergoing PCI with non-ST elevation acute coronary syndrome (NSTE-ACS. 219 patients with NSTE-ACS were randomised to Danlou Tablet pretreatment (n=109 or placebo (n=110. No patients received statins prior to PCI and all patients were given atorvastatin (10 mg/day after procedure. The main endpoint was the composite incidence of major adverse cardiac events (MACEs within 30 days after PCI. The proportion of patients with elevated levels of cTn I>5 × 99% of upper reference limit was significantly lower in the Danlou Tablet group at 8 h (22.0% versus 34.5%, p=0.04 and 24 h (23.9% versus 38.2%, p=0.02 after PCI. The 30-day MACEs occurred in 22.0% of the Danlou Tablet group and 33.6% in the placebo group (p=0.06. The incidence of MACE at 90-day follow-up was significantly decreased in the Danlou Tablet group compared to the placebo group (23.9% versus 37.3%, p=0.03. The difference between the groups at 90 days was the incidence of nonfatal myocardial infarction (22% versus 34.5%, p=0.04. These findings might support that treatment with Danlou Tablet could reduce the incidence of periprocedural myocardial infarction in patients with ACS undergoing PCI.

  15. High multivitamin intake by Wistar rats during pregnancy results in increased food intake and components of the metabolic syndrome in male offspring.

    Science.gov (United States)

    Szeto, Ignatius M Y; Aziz, Alfred; Das, Paul J; Taha, Ameer Y; Okubo, Nobuhiko; Reza-Lopez, Sandra; Giacca, Adria; Anderson, G Harvey

    2008-08-01

    The effect of high multivitamin intake during pregnancy on the metabolic phenotype of rat offspring was investigated. Pregnant Wistar rats (n=10 per group) were fed the AIN-93G diet with the recommended vitamin (RV) content or a 10-fold increase [high vitamin (HV) content]. In experiment 1, male and female offspring were followed for 12 wk after weaning; in experiment 2, only males were followed for 28 wk. Body weight (BW) was measured weekly. Every 4 wk, after an overnight fast, food intake over 1 h was measured 30 min after a gavage of glucose or water. An oral glucose tolerance test was performed every 3-5 wk. Postweaning fasting glucose, insulin, ghrelin, glucagon-like peptide-1, and systolic blood pressure were measured. No difference in BW at birth or litter size was observed. Food intake was greater in males born to HV dams (PBlood glucose response was 46% higher at 23 wk after weaning (Pblood pressure was 16% higher at 28 wk after weaning (Phigh multivitamin intake during pregnancy programmed the male offspring for the development of the components of metabolic syndrome in adulthood, possibly by its effects on central mechanisms of food intake control.

  16. Long-term safety and efficacy of clobazam for Lennox-Gastaut syndrome: interim results of an open-label extension study.

    Science.gov (United States)

    Ng, Yu-Tze; Conry, Joan; Paolicchi, Juliann; Kernitsky, Lydia; Mitchell, Wendy; Drummond, Rebecca; Isojarvi, Jouko; Lee, Deborah; Owen, Randall

    2012-12-01

    In an ongoing open-label extension (OV-1004), patients with Lennox-Gastaut syndrome who had completed 1 of 2 randomized controlled trials (OV-1002 [Phase II] or OV-1012 [Phase III]) are receiving clobazam at dosages ≤2.0 mg/kg/day (≤80 mg/day). Of 306 eligible patients from OV-1002 or OV-1012, 267 entered the open-label extension. As of the interim date, July 1, 2010, 213 patients (79.8%) had remained in the trial, and 189 had received clobazam for ≥12 months, 128 for ≥18 months, and 94 for ≥24 months. Median percentage decreases in average weekly rates of drop seizures were 71.1% and 91.6% at Months 3 and 24. Mean modal and mean maximum daily dosages were 0.94 mg/kg and 1.22 mg/kg for those who had received clobazam for ≥1 year. The 4 most common adverse events were upper respiratory tract infection (18.4%), fall (14.2%), pneumonia (13.9%), and somnolence (12.7%). Clobazam's adverse event profile was consistent with its profile in controlled trials.

  17. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  18. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  19. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  20. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  1. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  2. Treating craniofacial features and brain neurological symptoms resulting from cervical syndrome by knife acupuncture%颈椎综合征致头面五官和颅脑神经症状针刀治疗

    Institute of Scientific and Technical Information of China (English)

    张永锋

    2014-01-01

    目的:探讨针刀治疗颈椎源性头面五官和颅脑神经症状的临床治疗。方法:选取具有头面五官及颅脑神经临床症状且伴颈部症状体征患者,根据患痛部位不同,于寰筋膜、C2横突和关节突关节处以针刀常规治疗。结果:治愈率达78%~95%。结论:针刀治疗本病疗效显著,但要严格选好适应症。%Objective: To study clinical effects of knife acupuncture on craniofacial features and brain neurological symptoms resulting from cervical syndrome. Methods:All patients were given knife acupuncture at C2 transverse process and articular process joints according to the different parts of pain. Results: The curative rate was 78%~95%. Conclusion: Knife acupuncture was effective on craniofacial features and brain neurological symptoms resulting from cervical syndrome.

  3. Sheehan's syndrome.

    Science.gov (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  4. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  5. Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2015-02-01

    Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome are cancer syndromes which affect multiple organs and lead to significant decline in quality of life in affected patients. These syndromes are rare and typically affect the adolescent and young adult population, resulting in greater cumulative years of life lost. Improved understanding of the underpinnings of the genetic pathways underlying these syndromes and the rapid evolution of targeted therapies in general have made it possible to develop therapeutic options for these patients and other genetic cancer syndromes. Targeted therapies especially antiangiogenics and inhibitors of the PIK3CA/AKT/mTOR signaling pathway have shown activity in selected group of patients affected by these syndromes or in patients harboring specific sporadic mutations which are otherwise characteristic of these syndromes. Unfortunately due to the rare nature, patients with these syndromes are not the focus of clinical trials and unique results seen in these patients can easily go unnoticed. Most of the data suggesting benefits of targeted therapies are either case reports or small case series. Thus, a literature review was indicated. In this review we explore the use of molecularly targeted therapy options in Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome.

  6. Hemolytic uremic syndrome.

    Science.gov (United States)

    Canpolat, Nur

    2015-06-01

    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood.

  7. 河源地区孕中期唐氏综合症血清筛查结果分析%Analysis of serum screening results of Down's syndrome in the second trimester of pregnancy in Heyuan area

    Institute of Scientific and Technical Information of China (English)

    刘运华

    2015-01-01

    Objective To explore the risk status of pregnant women suffering from Down's syndrome in heyuan area, and eval-uate the clinical value of Down's syndrome screening in mid pregnancy in prevention of birth defects. Methods The concentra-tions of serum AFP (AFP), Free human chorionic gonadotropin (Free-beta HCG) and Free estriol (uE3) in 5297 cases of mid preg-nancy woman (14-20+6weeks) were detected by time-resolved method, and risk assessment of fetuses were done by production screen professional software combined with the gestational age, age and weight. Results Among 5297 cases of pregnant women, 362 cases were at high risk of Down's syndrome, 24 cases were at high risk of neural tube defects (NTD) and 23 cases were high risk population for trisomy 18 syndrome, the positive rate of them were 6.83%, 0.45%, and 0.43% respectively. The total positive rate of pregnant women whose age were over 35 years was higher than those below 35 years (P<0.05). Conclusions Mid pregnan-cy serological"triple screening"(AFP+Free-beta HCG+uE3) for fetal Down's syndrome is a non-invasive method, and screen-ing for Down's syndrome can prevent birth defects and improve the birth population quality.%目的:探索河源地区孕妇唐氏综合症的风险状况,分析孕中期唐氏综合症筛查在预防出生缺陷中的临床价值。方法用时间分辨法检测5297例孕中期(14~20+6)母体血清的甲胎蛋白(AFP),游离绒毛膜促性腺激素(Free-βHCG)和游离雌三醇(uE3)浓度,结合孕周、年龄和体重,运用专业的产筛软件进行胎儿风险评估。结果筛查的5297例孕妇中,唐氏综合症高危362例,阳性率为6.83%;神经管缺陷(NTD)高危24例,阳性率为0.45%;18-三体综合症高危23例,阳性率为0.43%;35岁以上者总阳性率高于35岁以下者(P<0.05)。结论孕中期血清学“三联法”(AFP+Free-βHCG+uE3)筛查胎儿唐氏综合症是一种无创性手段,普遍开展唐氏综合症筛查可预防

  8. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  9. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  10. Dysmobility syndrome: current perspectives

    Science.gov (United States)

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  11. Treatment of Hantavirus Pulmonary Syndrome

    Science.gov (United States)

    2007-10-14

    Clinical syndrome Hantaviruses cause a spectrum of vascular-leak syndromes n humans ranging from proteinuria to pulmonary edema and rank hemorrhage...of fatal illness. The illness is haracterized by fever and vascular leakage resulting in noncar- iogenic pulmonary edema followed in severe cases by...cardiopulmonary syndrome (HCPS) o emphasize the important role of cardiogenic shock; among ospitalized patients, death almost invariably results from

  12. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  13. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  14. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  15. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  16. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  17. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  18. Facts about Down Syndrome

    Science.gov (United States)

    ... Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a person ... in height as children and adults Types of Down Syndrome There are three types of Down syndrome. People ...

  19. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES 2001–2008

    Directory of Open Access Journals (Sweden)

    Fulgoni Victor L

    2013-01-01

    Full Text Available Abstract Background Avocados contain monounsaturated fatty acids (MUFA dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado consumption and nutrition data were based on 24-hour dietary recalls collected by trained NHANES interviewers using the USDA Automated Multiple Pass Method (AMPM. Physiological data were collected from physical examinations conducted in NHANES Mobile Examination Centers. Diet quality was calculated using the USDA’s Healthy Eating Index-2005. Subjects included 17,567 US adults  ≥ 19 years of age (49% female, including 347 avocado consumers (50% female, examined in NHANES 2001–2008. Least square means, standard errors, and ANOVA were determined using appropriate sample weights, with adjustments for age, gender, ethnicity, and other covariates depending on dependent variable of interest. Results Avocado consumers had significantly higher intakes of vegetables (p  Conclusions Avocado consumption is associated with improved overall diet quality, nutrient intake, and reduced risk of metabolic syndrome. Dietitians should be aware of the beneficial associations between avocado intake, diet and health when making dietary recommendations.

  20. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

    Full Text Available Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy.

  1. Is metabolic syndrome predictive of prevalence, extent, and risk of coronary artery disease beyond its components? Results from the multinational coronary CT angiography evaluation for clinical outcome: an international multicenter registry (CONFIRM.

    Directory of Open Access Journals (Sweden)

    Amir Ahmadi

    Full Text Available Although metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD, and prognosis of patients with metabolic syndrome to those with individual metabolic syndrome components. The study cohort consisted of 27125 consecutive individuals who underwent ≥ 64-detector row coronary CT angiography (CCTA at 12 centers from 2003 to 2009. Metabolic syndrome was defined as per NCEP/ATP III criteria. Metabolic syndrome patients (n = 690 were matched 1:1:1 to those with 1 component (n = 690 and 2 components (n = 690 of metabolic syndrome for age, sex, smoking status, and family history of premature CAD using propensity scoring. Major adverse cardiac events (MACE were defined by a composite of myocardial infarction (MI, acute coronary syndrome, mortality and late target vessel revascularization. Patients with 1 component of metabolic syndrome manifested lower rates of obstructive 1-, 2-, and 3-vessel/left main disease compared to metabolic syndrome patients (9.4% vs 13.8%, 2.6% vs 4.5%, and 1.0% vs 2.3%, respectively; p 0.05. At 2.5 years, metabolic syndrome patients experienced a higher rate of MACE compared to patients with 1 component (4.4% vs 1.6%; p = 0.002, while no difference observed compared to individuals with 2 components (4.4% vs 3.2% p = 0.25 of metabolic syndrome. In conclusion, Metabolic syndrome patients have significantly greater prevalence, severity, and prognosis of CAD compared to patients with 1 but not 2 components of metabolic syndrome.

  2. Is Metabolic Syndrome Predictive of Prevalence, Extent, and Risk of Coronary Artery Disease beyond Its Components? Results from the Multinational Coronary CT Angiography Evaluation for Clinical Outcome: An International Multicenter Registry (CONFIRM)

    Science.gov (United States)

    Ahmadi, Amir; Leipsic, Jonathon; Feuchtner, Gudrun; Gransar, Heidi; Kalra, Dan; Heo, Ran; Achenbach, Stephan; Andreini, Daniele; Al-Mallah, Mouaz; Berman, Daniel S.; Budoff, Matthew; Cademartiri, Filippo; Callister, Tracy Q.; Chang, Hyuk-Jae; Chinnaiyan, Kavitha; Chow, Benjamin; Cury, Ricardo C.; Delago, Augustin; Gomez, Millie J.; Hadamitzky, Martin; Hausleiter, Joerg; Hindoyan, Niree; Kaufmann, Philipp A.; Kim, Yong-Jin; Lin, Fay; Maffei, Erica; Pontone, Gianluca; Raff, Gilbert L.; Shaw, Leslee J.; Villines, Todd C.; Dunning, Allison; Min, James K.

    2015-01-01

    Although metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD), and prognosis of patients with metabolic syndrome to those with individual metabolic syndrome components. The study cohort consisted of 27125 consecutive individuals who underwent ≥64-detector row coronary CT angiography (CCTA) at 12 centers from 2003 to 2009. Metabolic syndrome was defined as per NCEP/ATP III criteria. Metabolic syndrome patients (n=690) were matched 1:1:1 to those with 1 component (n=690) and 2 components (n=690) of metabolic syndrome for age, sex, smoking status, and family history of premature CAD using propensity scoring. Major adverse cardiac events (MACE) were defined by a composite of myocardial infarction (MI), acute coronary syndrome, mortality and late target vessel revascularization. Patients with 1 component of metabolic syndrome manifested lower rates of obstructive 1-, 2-, and 3-vessel/left main disease compared to metabolic syndrome patients (9.4% vs 13.8%, 2.6% vs 4.5%, and 1.0% vs 2.3%, respectively; p0.05). At 2.5 years, metabolic syndrome patients experienced a higher rate of MACE compared to patients with 1 component (4.4% vs 1.6%; p=0.002), while no difference observed compared to individuals with 2 components (4.4% vs 3.2% p=0.25) of metabolic syndrome. In conclusion, Metabolic syndrome patients have significantly greater prevalence, severity, and prognosis of CAD compared to patients with 1 but not 2 components of metabolic syndrome. PMID:25734639

  3. PIRIFORMIS SYNDROME: A REVIEW

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    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  4. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  5. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander;

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  6. Parental Alienation Syndrome

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    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  7. The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter

    NARCIS (Netherlands)

    Voorwinden, J. S.; Jaspers, J. P. C.; ter Beest, J. G.; Kievit, Y.; Sijmons, R. H.; Oosterwijk, J. C.

    2012-01-01

    In predictive DNA testing for hereditary cancer, test results should traditionally be disclosed face-to-face. Increasingly, however, counselees ask to receive their test result at home by letter. To compare the quality of genetic counselling in the traditional way to a procedure in which counselees

  8. Franceschetti syndrome

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    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  9. Turner Syndrome

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    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  10. Proteus syndrome

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    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  11. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  12. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  13. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  14. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  15. Wallenberg's Syndrome

    Science.gov (United States)

    ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ... way, which makes it difficult to keep their balance when they walk. Treatment Treatment for Wallenberg's syndrome is symptomatic. A feeding ...

  16. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  17. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  18. Novel approach to evaluation of medical care quality delivered to patients with ST-segment elevation acute coronary syndrome: course to clinical result

    Directory of Open Access Journals (Sweden)

    Posnenkova О.М.

    2014-09-01

    Full Text Available The purpose was to implement system analysis of clinical cases for development of healthcare quality indicators for STe-ACS patients, aimed at achievement of clinical result — decrease of in-hospital mortality. Mathehal and Methods. National recommendations on diagnostic and treatment of patients with myocardial infarction with ST-segment elevation on ECG (2007 were used to determine clinical result of treatment and key measures of medical care. To reveal major causes of clinical result non-achievement fishbone diagram was used. Results. Early reperfusion and optimal medical therapy were determined as the key measures of medical care delivered to patients with STe-ACS. The following indicators were developed to control these measures: «Primary reperfusion», «Thrombolysis in 30 minutes», «Primary percutaneous coronary intervention in 90 minutes», «Dual antiplatelet therapy in hospital», «Beta-blockers administration», «ACE-is/ARBs administration». The major causes of in-hospital mortality were separated. Indicators for assessment the major causes of clinical result non-achievement were proposed. Principal stages of performance measures creation were posed. Conclusion. Recommendation-based and clear definition of clinical result of treatment and key measures of the result achievement combined with methods of systems analysis allows development of evidence-based measures for assessment the quality of care delivered to patients with STe-ACS.

  19. Aging and Intellectual Disability: Insights from Mouse Models of Down Syndrome

    Science.gov (United States)

    Ruparelia, Aarti; Pearn, Matthew L.; Mobley, William C.

    2013-01-01

    Down syndrome (DS) is one of many causes of intellectual disability (ID), others including but not limited to, fetal alcohol syndrome, Fragile X syndrome, Rett syndrome, Williams syndrome, hypoxia, and infection. Down syndrome is characterized by a number of neurobiological problems resulting in learning and memory deficits and early onset…

  20. Psychosomatic syndromes and anorexia nervosa

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    Abbate-Daga Giovanni

    2013-01-01

    Full Text Available Abstract Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN, few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63% and alexithymia (54.6% resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%, somatization group (26%, and severe psychosomatic group (25%. The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments.

  1. Asperger Syndrome in children

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    Ioannis Koutelekos

    2009-02-01

    Full Text Available The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992 and afterwards in the DSM-IV (American Psychiatric Organization, 1994. The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim of this particular article that constitutes a case study is the descriptive approach of the Asperger’s Syndrome, through the study of the child behavior.The methodology that was followed in the present case-study was based on inquiring studies and reviews that were drawn from international data bases that correspond to this particular case study of syndrome Asperger in children.Results: The individuals with Asperger’ s syndrome, as well as the case study, tend to experience really big difficulties in elementary social behaviors, as failure in the development and creation of friendly relations or in the search of entertainment activities with others. Moreover, they face difficulties in the comprehension of non verbal communication (body language and the other’s expressions, the body gestures or even the eye contact.Conclusions: The precocious recognition of Asperger’s syndrome is imperative, with final objective the continuous briefing and sensitization of all health professionals, as well as the wider public, toward this syndrome. The earlier a parent foreruns for the diagnosis, the bigger probabilities they stand for a potential functional re-establishment of the syndrome.

  2. Maternal high-fat diet consumption results in fetal malprogramming predisposing to the onset of metabolic syndrome-like phenotype in adulthood.

    Science.gov (United States)

    Srinivasan, Malathi; Katewa, Subhash D; Palaniyappan, Arivazhagan; Pandya, Jignesh D; Patel, Mulchand S

    2006-10-01

    Chronic consumption of a high-fat (HF) diet by female rats in their postweaning period resulted in significant increases in body weight and plasma levels of insulin, glucose, and triglycerides during pregnancy compared with female rats consuming a standard rodent laboratory chow (LC). On gestational day 21, plasma insulin levels and the insulin secretory response of islets to various secretogogues were significantly increased in HF fetuses. The HF male progeny weaned onto LC (HF/LC) demonstrated increases in body weight from postnatal day 60 onward. In adulthood, HF/LC male rats were significantly heavier than controls, had increased plasma levels of insulin, glucose, free fatty acids, and triglycerides, and demonstrated glucose intolerance. HF/LC male islets secreted increased amounts of insulin in response to low glucose concentrations, but their response to a high glucose concentration was similar to that of LC/LC islets. In another set of experiments, when the male progeny of HF female rats were weaned onto a high-sucrose diet (HF/HSu), their metabolic profile was further worsened. These results indicate that chronic consumption of a HF diet by female rats malprograms the male progeny for glucose intolerance and development of increased body weight in adulthood. The long-term high-fat feeding to female rats employed in this study bears resemblance to the dietary habits in Western societies. The results of this study implicate dietary practices of women in the etiology of the present epidemic of human obesity and related disorders.

  3. CHARGE syndrome

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    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  4. 86例非综合征型耳聋患者耳聋基因芯片检测结果分析%Deafness Gene Chip Testing Results in 86 Cases of Non-Syndromic Deafness

    Institute of Scientific and Technical Information of China (English)

    孙捷; 韦桂玲; 陈俞; 张华

    2013-01-01

    Objective To investigate the value of deafness gene chip testing in patients with non-syndromic deafness. Methods Using a deafness gene chip kit capable of detecting 9 mutation sites in four deafness-associated genes (SLC26A4, GJB3, GJB2 and mtDNA12s rRNA), 86 patients with non-syndromic deafness were tested. All patients received imaging studies of the temporal bone, brain and internal auditory canal as well as cochlear fluid imaging. Results Among these 86 pa-tients with non-syndromic deafness, 51.16% were found to carry hotspot mutations of deafness associated genes, involving the GJB2 gene (n=24, 27.91%), the GJB3 gene (n=2) and the SLC26A4 gene (n=19) with enlarged vestibular aqueducts on temporal bone CT and cochlear malformations (apical turn hypoplasia). There was no mtDNA12s rRNA gene mutation, possi-bly related to the small sample size. Conclusion Deafness gene chip kit can be used for screening of hotspot mutations in the multi-ethnic region of Xinjiang, although gene sequencing should be a necessary complement. SLC26A4 gene test results in patients with large vestibular aqueduct syndrome are consistent with their temporal bone imaging findings.%  目的探讨遗传性耳聋基因芯片用于非综合征型耳聋患者检测的临床意义。方法采用遗传性聋基因芯片试剂盒对86例非综合征型耳聋患者基因组DNA的GJB2、SLC26A4、GJB3和mtDNA12s rRNA四个耳聋相关基因的9个致聋突变位点进行检测;对所有患者进行颞骨高分辨率CT(HRCT)、头颅MRI、内听道扫描,耳蜗水成像。结果在86例非综合征型耳聋患者中携带所检测热点耳聋相关基因突变者占51.16%;其中GJB2基因突变携带者24例(27.91%,24/86),GJB3基因突变携带者2例,SLC26A4基因突变携带者19例,颞骨CT均显示前庭水管扩大,而且均伴有耳蜗发育畸形,表现为蜗顶发育不全;mtDNA12s rRNA基因突变0例,考虑与样本量少有关。结论遗传性聋基因芯片试剂

  5. Neuroacanthocytosis Syndromes

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    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  6. HYDROLETHALUS SYNDROME

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    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  7. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  8. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  9. Performance measures for management of chronic heart failure patients with acute coronary syndrome in China: results from the Bridging the Gap on Coronary Heart Disease Secondary Prevention in China (BRIG)Project

    Institute of Scientific and Technical Information of China (English)

    WANG Na; ZHAO Dong; LIU Jing; LIU Jun; Cheuk-Man Yu; WANG Wei; SUN Jia-yi

    2013-01-01

    Background Chronic heart failure (CHF) is a severe clinical syndrome associated with high morbidity and mortality,and with high health care expenditures.No nationwide data are currently available regarding the quality of clinical management of CHF patients in China.The aim of this study was to assess the quality of care of CHF inpatients in China.Methods The American College of Cardiology/American Heart Association Clinical Performance Measures for Adults with Chronic Heart Failure (Inpatient Measurement Set) with slight modifications was used to measure the performance status in 612 CHF patients with acute coronary syndrome (ACS) from 65 hospitals across all regions of China.Results The implementation rates of guideline recommended strategies for CHF management were low.Only 57.5% of the CHF patients received complete discharge instructions,53.6% of the patients received evaluation of left ventricular systolic function,62.8% received an angiotensin-converting enzyme inhibitor/angiotensin receptor blocker at discharge,and 52.7% received a β-blocker at discharge,56.3% of the smokers received smoking cessation counseling.The rate of warfarin utilization was only 9.7% in CHF patients with atrial fibrillation.Most patients (81.4%) did not receive all the first four treatments.There were marked differences in the quality of CHF management among patients with different characteristics.Conclusions Performance measures provide a standardized method of assessing quality of care,and can thus highlight problems in disease management in clinical practice.The quality of care for CHF patients with ACS in China needs to be improved.

  10. Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human.

    Science.gov (United States)

    Verma, Richa; Ghosh, Jimut Kanti

    2010-03-01

    Mutations in various voltage gated cardiac ion channels are the cause of different forms of long QT syndrome (LQTS), which is an inherited arrhythmic disorder marked as a prolonged QT interval on electrocardiogram. Of these LQTS1 is associated with mutations in the gene encoding KCNQ1 (KvLQT1) channel. One responsible mutation, G269S, in the S5 segment of KvLQT1, that affects the proper expression and function of channel protein leads to LQTS1. Our objective was to study how G269S mutation interferes with the structure and function of a synthetic S5 segment of KvLQT1 channel. One wild type 22-residue peptide and another mutant peptide of the same length with G269S mutation, derived from the S5 segment were synthesized and labeled with fluorescent probes. The mutant peptide exhibited lower affinity towards phospholipid vesicles as compared to the wild type peptide and showed impaired assembly and localization onto the lipid vesicles as evidenced by membrane-binding, energy transfer and proteolytic cleavage experiments. Loss in the helical content of S5 mutant peptide in membrane-mimetic environments was observed. Furthermore, it was observed that G269S mutation significantly inhibited the ability of S5 peptide to permeabilize the lipid vesicles. The present studies show the basis of change in function of the selected S5 segment as a result of G269S mutation which is associated with LQT1 syndrome. We speculate that the structural and functional changes related to the glycine to serine amino acid substitution in the S5 segment may also influence the activity of the whole KvLQT1 channel.

  11. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás;

    2015-01-01

    model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7...... weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose...... alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant...

  12. Prevalence of Carpal Tunnel Syndrome among Individuals with Down Syndrome.

    Science.gov (United States)

    Christensen, Jens Erik Just; Peter, Peter Johannsen; Nielsen, Viggo Kamp; Mai, Jesper

    1998-01-01

    Forty-eight patients with Down syndrome were examined clinically and electrophysiologically for occurrence of carpal tunnel syndrome. Twenty-seven patients had normal findings, 13 had prolonged distal motor latency and reduced distal nerve conduction velocity, and 8 patients had one of these signs. Results show that prevalence of…

  13. Isolated Horner Syndrome From an Elongated Styloid Process (Eagle Syndrome).

    Science.gov (United States)

    Chang, Caitlin A; Lin, Tony; Fung, Kevin; Sharma, Manas; Fraser, J Alexander

    2015-12-01

    Eagle syndrome occurs when an elongated styloid process causes otolaryngological or neurological symptoms or signs. We report a patient who had an isolated asymptomatic Horner syndrome that resulted from a pinned internal carotid artery being dynamically injured by an elongated styloid process during chiropractic neck manipulation. There was no evidence of arterial dissection.

  14. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  15. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  16. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  17. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  18. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  19. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  20. Zellweger Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  1. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  2. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  3. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  4. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  5. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  6. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  7. Gardner Syndrome

    Science.gov (United States)

    ... or central nervous system tumor less than 1% Stomach cancer 0.5% Bile duct cancer small, but increased Adrenal gland cancer small, but increased What are the screening options for Gardner syndrome? The screening options for ...

  8. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  9. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  10. Turner Syndrome

    Science.gov (United States)

    ... in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart ... Turner syndrome are at increased risk of aortic dissection during pregnancy, they should be evaluated by a ...

  11. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  12. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  13. Obstetric complications in Marfan syndrome

    NARCIS (Netherlands)

    Meijboom, LJ; Drenthen, W; Pieper, PG; Groenink, M; Van der Post, JAM; Timmermans, J; Voors, AA; Roos-Hesselink, JW; van Veldhuisen, DJ; Mulder, BJM

    2006-01-01

    Objective: To investigate the obstetric maternal and neonatal outcome of pregnancy in women with Marfan syndrome. Methods: Retrospective observational multi-center study based on congenital heart disease registry. Results: Sixty-three of the 122 enrolled women with Marfan syndrome had been pregnant

  14. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome.

  15. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  16. The Down Syndrome Advantage: Fact or Fiction?

    Science.gov (United States)

    Corrice, April M.; Glidden, Laraine Masters

    2009-01-01

    The "Down syndrome advantage" is the popular conception that children with Down syndrome are easier to rear than children with other developmental disabilities. We assessed whether mothers of children with developmental disabilities would demonstrate a consistent Down syndrome advantage as their children aged from 12 to 18 years. Results did not…

  17. Pulmonary carcinoid tumor associated with nephrotic syndrome.

    Science.gov (United States)

    DePace, N L; Elquezabal, A; Hardenburg, H C

    1980-04-01

    A patient with carcinoid tumor of the lung associated with nephrotic syndrome was treated. Excision of the tumor resulted in remission of marked proteinuria, hypoalbuminemia, and edema. A review of the literature disclosed many neoplasms associated with the nephrotic syndrome; however, no association of the nephrotic syndrome and a carcinoid tumor of the lung has previously been reported, to our knowledge.

  18. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  19. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  20. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  1. Down Syndrome (For Kids)

    Science.gov (United States)

    ... continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can't ... have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome go to regular ...

  2. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  3. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome Print A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  4. Cauda-conus syndrome resulting from neurocysticercosis

    Directory of Open Access Journals (Sweden)

    Singh N

    2003-01-01

    Full Text Available A 60-year-old male, presented with insidious onset, gradually progressive, burning paresthesia over the saddle area, sphincteric disturbance, impotence and paraparesis. Investigations revealed a ring-enhancing lesion in the conus medullaris suggestive of neurocysticercosis . This was supported by quantitative enzyme-linked immunosorbant assay from purified cell fraction of taenia solium cysticerci. On treatment with steroids he showed marked improvement.

  5. Rapunzel syndrome resulting in gastric perforation.

    Science.gov (United States)

    Parakh, J S; McAvoy, A; Corless, D J

    2016-01-01

    We report the case of an 18-year-old female patient with no past medical history who presented to the emergency department with acute abdominal pain and vomiting on the background of a long history of ingesting hair (trichophagia). Computed tomography revealed pneumoperitoneum and free fluid in keeping with visceral perforation. In addition, a large hair bolus was seen extending in contiguity from the stomach to the jejunum. A laparotomy was performed, revealing an anterior gastric perforation secondary to a 120cm long trichobezoar, which had formed a cast of the entire stomach, duodenum and proximal jejunum. The bezoar was removed and an omental patch repair to the anterior ulcer was performed. The patient made an excellent postoperative recovery and was discharged home with psychiatric follow-up review.

  6. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD

    2017-01-01

    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  7. Comparison of the electrophysiologic results after two different surgical decompressions of carpal tunnel syndrome%腕管综合征两种减压手术后肌电图检测结果的分析比较

    Institute of Scientific and Technical Information of China (English)

    吴佩蓉; 付备刚; 陆耀刚; 娄玉健; 马明; 王秀会

    2013-01-01

    Objective To investigate the extent of electmphysiologic improvement of the two procedures of median nerve decompression after comparing the mid-to long-term electrophysiologic results of endoscopic and open carpal tunnel release of patients with intermediate to severe carpal tunnel syndrome.Methods The clinical data of 46 cases (59 wrists) of carpal tunnel syndrome (CTS) were treated in two groups according to the randomized operation mode,endoscopic carpal tunnel release (ECTR) group (32 wrists in 24 cases) and open carpal tunnel release (OCTR) group (27 wrists in 22 cases).Nerve conduction study was carried out to record compound muscle action potential (CMAP),sensory nerve action potential (SNAP) and sensory nerve conduction velocity (SNCV) one year after the carpal tunnel release.CMAP latency,SNAP amplitude and SNCV were analyzed and compared between the two groups.Results The differences in abductor policis brevis CMAP latency and SNCV one year postoperatively were of statistical significance between the ECTR group and the OCTR group.However,there were no statistically significant differences between the SNAP amplitudes of the two groups.Conclusion The mid-to long-term neuroelectrophysiologic results indicated that the improvement of electrophysiologic indices of conventional OCTR is better than those of the ECTR in treating intermediate to severe carpal tunnel syndrome.%目的 通过分析比较中、重度腕管综合征传统与内窥镜微创减压手术后中远期肌电图检测结果的差异,探讨两种方法治疗腕管综合征后肌电指标改善的程度.方法 选择中、重度腕管综合征患者共46例59腕,按手术方法的不同分为两组,其中传统切开减压组22例27腕、内窥镜微创减压组24例32腕,于术后1年进行肌电图检测,对复合肌肉动作电位(compound muscle action potential,CMAP)潜伏期、感觉神经动作电位(sensory nerve action potential,SNAP)波幅及感觉传导速度(sensory nerve conduction

  8. POST PANCREATITIS SMA SYNDROME : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ritesh M

    2015-05-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare acquired disorder in which acute angulation of SMA causes compression of the third part of the duodenum between the SMA and the aorta, leading to obstruction. Loss of fatty tissue as a result of a variet y of debilitating conditions is believed to be the etiologic factor causing the acute angulation. Conditions like increased spinal lordosis, application of a body cast, short ligament of Treitz or unusually low origin of SMA may also precipitate this syndr ome. The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction. SMA syndrome has been described after rapid or severe weight loss in conditions such as cancer or extensive burn injuries, prolonged bed rest, anorexia , or malabsorption syndromes. Herewith we are reporting a case of post pancreatitis SMA syndrome. KEYWORDS: Post pancreatitis SMA syndrome; superior mesenteric artery syndrome; SMA syndrome.

  9. Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay.

    Science.gov (United States)

    Armistead, Joy; Hemming, Richard; Patel, Nehal; Triggs-Raine, Barbara

    2014-06-01

    Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder caused by a D86G substitution in the protein, Essential for Mitotic Growth 1 (EMG1). EMG1 is essential for 18S rRNA maturation and 40S ribosome biogenesis in yeast, but no studies of its role in ribosome biogenesis have been done in mammals. To assess the effect of the EMG1 mutation on cell growth and ribosomal biogenesis in humans, we employed BCS patient cells. The D86G substitution did not interfere with EMG1 nucleolar localization. In BCS patient lymphoblasts, cells accumulated in G2/M, resulting in reduced proliferation rates; however, patient fibroblasts showed normal proliferation. The rate of 18S rRNA processing was consistently delayed in patient cells, although this did not lead to a difference in the levels of 40S ribosomes, or a change in protein synthesis rates. These results demonstrate that as in yeast, EMG1 in mammals has a role in ribosome biogenesis. The obvious phenotype in lymphoblasts compared to fibroblasts suggests a greater need for EMG1 in rapidly dividing cells. Tissue-specific effects have been seen in other ribosomal biogenesis disorders, and it seems likely that the impact of EMG1 deficiency would be larger in the rapidly proliferating cells of the developing embryo.

  10. Mutation of EMG1 causing Bowen–Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay

    Directory of Open Access Journals (Sweden)

    Joy Armistead

    2014-06-01

    Full Text Available Bowen–Conradi syndrome (BCS is a lethal autosomal recessive disorder caused by a D86G substitution in the protein, Essential for Mitotic Growth 1 (EMG1. EMG1 is essential for 18S rRNA maturation and 40S ribosome biogenesis in yeast, but no studies of its role in ribosome biogenesis have been done in mammals. To assess the effect of the EMG1 mutation on cell growth and ribosomal biogenesis in humans, we employed BCS patient cells. The D86G substitution did not interfere with EMG1 nucleolar localization. In BCS patient lymphoblasts, cells accumulated in G2/M, resulting in reduced proliferation rates; however, patient fibroblasts showed normal proliferation. The rate of 18S rRNA processing was consistently delayed in patient cells, although this did not lead to a difference in the levels of 40S ribosomes, or a change in protein synthesis rates. These results demonstrate that as in yeast, EMG1 in mammals has a role in ribosome biogenesis. The obvious phenotype in lymphoblasts compared to fibroblasts suggests a greater need for EMG1 in rapidly dividing cells. Tissue-specific effects have been seen in other ribosomal biogenesis disorders, and it seems likely that the impact of EMG1 deficiency would be larger in the rapidly proliferating cells of the developing embryo.

  11. 抗生素联合使用对肉鸡呼吸道综合症治疗效果的影响%Effect of antibiotic combined use on the respiratory syndrome therapeutic results of the chicken

    Institute of Scientific and Technical Information of China (English)

    刘玲玲; 肖松云; 李文刚; 饶宝; 程亚楼

    2012-01-01

    选用四种针对呼吸系统的抗生素,通过对发病鸡群进行集中饮水投药,对不同成分的抗生素在肉鸡呼吸道综合症中的治疗效果进行评价。结果显示:鸡群饮用10%阿奇霉素和10%替米考星后,死亡率降低10%,采食量提高了24%;饮用泰妙菌素和多西环素,死亡率降低7%,采食量提高14%;饮用单纯的泰妙菌素后,死亡率降低5%,采食量提高5%。结果表明:抗生素有选择的联合使用能有效提高肉鸡呼吸道综合症的治疗效果,降低产生耐药性的可能,能防治肉鸡饲养管理过程中出现的病症,降低总体饲养成本,提高肉鸡生产的经济效益。%In this study,the four different composition antibiotics against respiratory tract infections were selected in order to evaluate the therapeutic effect on the respiratory syndrome of the chickens,through the drinking water to concentrate administration,the overall state of chickens after administration were observed.The results showed that chickens drinking 10% of azithromycin and 10% of tilmicosin,10% of the mortality rate was lower than before,the feed intake increased by 24%.Chickens drinking Tiamulin and doxycycline,the mortality rates reduced by 7%,the feed intake increased 14% over the previous.Chickens drinking Tiamulin simple,the mortality rate was 5% lower than before treatment,the feed intake increased by 5%.The result indicated that the selective combination of antibiotics for respiratory could improve effectively chickens respiratory syndrome therapeutic effects,and reduce resistance.It could control the breeding management of the disease,reduce overall feeding cost and increase economic efficiency of the chicken production.

  12. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  13. Alport's Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Suchita Mehta

    2013-01-01

    Full Text Available Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy. Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes.

  14. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth;

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...... methods. RESULTS: Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C,USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted...

  15. Patellofemoral pain syndrome.

    Science.gov (United States)

    Collado, Hervé; Fredericson, Michael

    2010-07-01

    Patellofemoral pain (PFP) syndrome is a frequently encountered overuse disorder that involves the patellofemoral region and often presents as anterior knee pain. PFP can be difficult to diagnose. Not only do the etiology, diagnosis, and treatment remain challenging, but the terminology used to describe PFP is used inconsistently and can be confusing. Patellofemoral pain syndrome (PFPS) seems to be multifactorial, resulting from a complex interaction among intrinsic anatomic and external training factors. Although clinicians frequently make the diagnosis of PFPS, no consensus exists about its etiology or the factors most responsible for causing pain. This article discusses the pathophysiology, diagnosis, and management of PFP.

  16. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  17. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...

  18. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  19. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  20. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  1. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  2. Chinese Herbal Medicines Might Improve the Long-Term Clinical Outcomes in Patients with Acute Coronary Syndrome after Percutaneous Coronary Intervention: Results of a Decision-Analytic Markov Model

    Directory of Open Access Journals (Sweden)

    Shao-Li Wang

    2015-01-01

    Full Text Available Aims. The priority of Chinese herbal medicines (CHMs plus conventional treatment over conventional treatment alone for acute coronary syndrome (ACS after percutaneous coronary intervention (PCI was documented in the 5C trial (chictr.org number: ChiCTR-TRC-07000021. The study was designed to evaluate the 10-year effectiveness of CHMs plus conventional treatment versus conventional treatment alone with decision-analytic model for ACS after PCI. Methods and Results. We constructed a decision-analytic Markov model to compare additional CHMs for 6 months plus conventional treatment versus conventional treatment alone for ACS patients after PCI. Sources of data came from 5C trial and published reports. Outcomes were expressed in terms of quality-adjusted life years (QALYs. Sensitivity analyses were performed to test the robustness of the model. The model predicted that over the 10-year horizon the survival probability was 77.49% in patients with CHMs plus conventional treatment versus 77.29% in patients with conventional treatment alone. In combination with conventional treatment, 6-month CHMs might be associated with a gained 0.20% survival probability and 0.111 accumulated QALYs, respectively. Conclusions. The model suggested that treatment with CHMs, as an adjunctive therapy, in combination with conventional treatment for 6 months might improve the long-term clinical outcome in ACS patients after PCI.

  3. Shaken Baby Syndrome: a review.

    Science.gov (United States)

    Mian, Maha; Shah, Janki; Dalpiaz, Amanda; Schwamb, Richard; Miao, Yimei; Warren, Kelly; Khan, Sardar

    2015-06-01

    Shaken Baby Syndrome occurs in infants as a result of the brain pushing against the skull due to severe acceleration-deceleration forces. Symptoms of Shaken Baby Syndrome include subdural, subarachnoid, and retinal hemorrhages. MRI and ocular examinations are used to determine the extent of mental and visual damage and β-amyloid precursor protein immunohistochemical staining is used to detect axonal injuries. Surgeries such as Subdural hemorrhage (SDH) evacuation surgery and the Burr hole craniotomy are used to treat Shaken Baby Syndrome; however, the prognosis is poor in many cases. Because of the severity of Shaken Baby Syndrome and its traumatic and sometimes fatal effects, it is important to educate new parents, nurses, and doctors on the syndrome in order to prevent incidents.

  4. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  5. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  6. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  7. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  8. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  9. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  10. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  11. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  12. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  13. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  14. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  15. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  16. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  17. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  18. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  20. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  1. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  2. Aicardi Syndrome

    Science.gov (United States)

    ... such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias , which are groups of brain cells that, during development, migrated to the wrong area ...

  3. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  4. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  5. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  6. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  7. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  8. Troyer Syndrome

    Science.gov (United States)

    ... atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene ...

  9. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  10. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  11. Genetics Home Reference: Renpenning syndrome

    Science.gov (United States)

    ... A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Novel truncating mutations ... Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results ...

  12. Genetic syndromes associated with overgrowth in childhood.

    Science.gov (United States)

    Ko, Jung Min

    2013-09-01

    Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.

  13. 羊膜带综合征相关畸形的相关因素、诊断及处理结果分析%Amniotic band syndrome deformity related factors, diagnosis, and treatment results

    Institute of Scientific and Technical Information of China (English)

    梁莉; 黄桂芳; 黄贞; 陆启升

    2013-01-01

    目的 报告2例羊膜带综合征(ABS),对其伴有的复杂畸形进行分析,探讨羊膜带综合征相关畸形的相关因素、诊断及处理结果分析.方法 对2例ABS进行B超影像结果分析,其中1例进行羊膜粘连带及受累组织进行组织学观察.结果 本文1例为严重的不对称的复合性畸形,包括头面部、腹壁及肢体等异常,该病例能找到明确的羊膜带粘连证据,粘连带为纤维结缔组织,可见羊膜上皮、皮肤或头皮-羊膜粘连处为羊膜的中胚层面粘合于表皮下的结缔组织,腹壁缺损缘为羊膜逐渐向皮肤鳞状上皮移行(羊膜-外胚层过渡带).另1例为单纯的脑膜脑膨出畸形,所有病例的B超影像均在羊水中可见到漂浮的带状回声,其部分贴附于胎儿;羊膜带粘连处的胎儿肢体部分可见畸形,畸形部位常可扫查到羊膜的带状回声与之粘连.结论 ABS主要表现为外表面组织器官缺陷;受累组织器官由于其在发生的关键时期,因羊膜囊破裂及羊膜带粘连受到干扰而致畸;畸形的严重程度及范围取决于羊膜囊破裂的时间和部位.ABS重在预防,妊娠中期常规进行超声检查,早期诊断,早期干预.%Objective: To report 2 cases of amniotic band syndrome ( ABS) , its associated with malformation complex analysis, explore the amniotic band syndrome associated malformations associated factors, diagnosis and treatment result analysis. Methods; 2 cases of ABS B ultrasound image analysis of results, which a case of amniotic adhesion bands and the involved tissues for histological observation. Results; In the 1 cases of serious asymmetric composite deformities, including the head and face, abdominal and limb abnormalities , the case can be found clear evidence of amniotic band adhesion, adhesion with fibrous connective tissue, visible amniotic epithelial, skin or scalp - amniotic adhesions as amniotic mesoderm surface bonded to the epidermis under connective tissues

  14. Short Bowel Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Short Bowel Syndrome What is Short Bowel Syndrome Short bowel syndrome is a group of problems ... between the stomach and large intestine. What causes Short Bowel Syndrome? The main cause of short bowel syndrome is ...

  15. Hormonal and metabolic effects of polyunsaturated fatty acids in young women with polycystic ovary syndrome: results from a cross-sectional analysis and a randomized, placebo-controlled, crossover trial.

    LENUS (Irish Health Repository)

    Phelan, Niamh

    2012-02-01

    BACKGROUND: Polycystic ovary syndrome (PCOS) is characterized by an adverse metabolic profile. Although dietary changes are advocated, optimal nutritional management remains uncertain. Polyunsaturated fatty acids (PUFAs), particularly long-chain (LC) n-3 (omega-3) PUFAs, improve metabolic health, but their therapeutic potential in PCOS is unknown. OBJECTIVES: We aimed to determine the associations between plasma PUFAs and metabolic and hormonal aspects of PCOS to investigate the efficacy of LC n-3 PUFA supplementation and to support the findings with mechanistic cellular studies. DESIGN: We selected a cross-sectional PCOS cohort (n = 104) and conducted a principal component analysis on plasma fatty acid profiles. Effects of LC n-3 PUFA supplementation on fasting and postprandial metabolic and hormonal markers were determined in PCOS subjects (n = 22) by a randomized, crossover, placebo-controlled intervention. Direct effects of n-6 (omega-6) compared with n-3 PUFAs on steroidogenesis were investigated in primary bovine theca cells. RESULTS: Cross-sectional data showed that a greater plasma n-6 PUFA concentration and n-6:n-3 PUFA ratio were associated with higher circulating androgens and that plasma LC n-3 PUFA status was associated with a less atherogenic lipid profile. LC n-3 PUFA supplementation reduced plasma bioavailable testosterone concentrations (P < 0.05), with the greatest reductions in subjects who exhibited greater reductions in plasma n-6:n-3 PUFA ratios. The treatment of bovine theca cells with n-6 rather than with n-3 PUFAs up-regulated androstenedione secretion (P < 0.05). CONCLUSIONS: Cross-sectional data suggest that PUFAs modulated hormonal and lipid profiles and that supplementation with LC n-3 PUFAs improves androgenic profiles in PCOS. In bovine theca cells, arachidonic acid modulated androstenedione secretion, which suggests an indirect effect of n-3 PUFAs through the displacement of or increased competition with n-6 PUFAs. This trial was

  16. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  17. Hemophagocytic Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Derya Ozturk

    2014-12-01

    Full Text Available Hemophagocytic syndrome, a serious clinical condition accompanying systemic inflammatory disorders, is characterized by massive hypercytokinemia as a result of excessive activation and proliferation of T-lymphocytes and macrophages. This article aims to remind clinicians of the hemophagocytic syndrome in the differential diagnosis of patients with fever, pancytopenia, and hepatosplenomegaly. This condition can be highly fatal despite the administration of appropriate therapy. Early diagnosis of hemophagocytic syndrome is of utmost importance, as a delay in diagnosis significantly worsens the prognosis, and treatment should be tailored to the underlying pathology.

  18. Caries in Portuguese children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Maria Areias

    2011-01-01

    Full Text Available OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  19. Williams-Beuren's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  20. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  1. Safety, tolerability, and initial efficacy of AZD6140, the first reversible oral adenosine diphosphate receptor antagonist, compared with clopidogrel, in patients with non-ST-segment elevation acute coronary syndrome: primary results of the DISPERSE-2 trial

    DEFF Research Database (Denmark)

    Cannon, Christopher P; Husted, Steen; Harrington, Robert A;

    2007-01-01

    OBJECTIVES: Our goal was to compare the safety and initial efficacy of AZD6140, the first reversible oral adenosine diphosphate receptor antagonist, with clopidogrel in patients with non-ST-segment elevation acute coronary syndromes (NSTE-ACS). BACKGROUND: AZD6140 achieves higher mean levels of p...

  2. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

    NARCIS (Netherlands)

    H.L.A. Janssen (Harry); J.P. Vandenbroucke; F.R. Rosendaal (Frits); B. van Hoek (Bart); J.R. Meinardi; F.P. Vleggaar (Frank); S.H. van Uum; E.B. Haagsma (Els); F.J.M. van der Meer; J. van Hattum (Jan); R.A. Chamuleau; R.P.R. Adang (Rob)

    2000-01-01

    textabstractIn a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosi

  3. Is metabolic syndrome predictive of prevalence, extent, and risk of coronary artery disease beyond its components? results from the multinational coronary ct angiography evaluation for clinical outcome: An international multicenter registry (confirm) : An international multicenter registry (confirm)

    NARCIS (Netherlands)

    Ahmadi, A. (Amir); J. Leipsic (Jonathon); G.M. Feuchtner (Gudrun); H. Gransar (Heidi); Kalra, D. (Dan); R. Heo (Ran); S. Achenbach (Stephan); D. Andreini (Daniele); M. Al-Mallah (Mouaz); D.S. Berman (Daniel S.); M.J. Budoff (Matthew); F. Cademartiri (Filippo); T.Q. Callister (Tracy); H.-J. Chang (Hyuk-Jae); K. Chinnaiyan (Kavitha); B.J.W. Chow (Benjamin); R.C. Cury (Ricardo); A. Delago (Augustin); M. Gomez (Millie); M. Hadamitzky (Martin); J. Hausleiter (Jörg); N. Hindoyan (Niree); P.A. Kaufmann (Philipp); Y.-J. Kim (Yong-Jin); F.Y. Lin (Fay); E. Maffei (Erica); G. Pontone (Gianluca); G.L. Raff (Gilbert); L.J. Shaw (Leslee); T.C. Villines (Todd); A.M. Dunning (Allison M.); J.K. Min (James)

    2015-01-01

    textabstractAlthough metabolic syndrome is associated with increased risk of cardiovascular disease and events, its added prognostic value beyond its components remains unknown. This study compared the prevalence, severity of coronary artery disease (CAD), and prognosis of patients with metabolic sy

  4. Specific scoring systems to predict survival of patients with high-risk myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML) after intensive antileukemic treatment based on results of the EORTC-GIMEMA AML-10 and intergroup CRIANT studies

    NARCIS (Netherlands)

    Oosterveld, M.; Suciu, S.; Muus, P.; Germing, U.; Delforge, M.; Belhabri, A.; Aul, C.; Selleslag, D.; Ferrant, A.; Marie, J.P.; Amadori, S.; Jehn, U.; Mandelli, F.; Hess, U.; Hellstrom-Lindberg, E.; Cakmak-Wollgast, S.; Vignetti, M.; Labar, B.; Willemze, R.; Witte, T.J. de

    2015-01-01

    High-risk myelodysplastic syndrome (MDS) patients have usually a less favorable outcome after intensive treatment compared with de novo acute myeloid leukemia (AML) patients. This may reflect different disease-related and patient-related factors. The purpose of this analysis is to identify disease-s

  5. Síndrome de Sturge-Weber: relato de caso dos achados da avaliação fonoaudiológica Sturge-Weber syndrome: a case report on the results of the phonoaudiological evaluation

    Directory of Open Access Journals (Sweden)

    Sara Virgínia Paiva Santos

    2010-02-01

    Full Text Available TEMA: avaliação fonoaudiológica em síndrome de rara ocorrência. PROCEDIMENTOS: descrever o desempenho apresentado na avaliação fonoaudiológica clínica de uma paciente com diagnóstico genético de Síndrome de Sturge-Weber. Para isso, utilizou-se de avaliação da motricidade e funções orofaciais, das habilidades pragmática e semântica da linguagem oral, processos perceptuais visual e auditivo, funções cognitivas e aplicação do Denver II. RESULTADOS: na avaliação da motricidade orofacial a paciente apresentou anomalias de estruturas ósseas da face, inadequação quanto à morfologia, mobilidade e tônus de todos os órgãos fonoarticulatórios, presença de reflexos de procura e sucção primitivos. Na avaliação das habilidades pragmática e semântica da linguagem oral, processos perceptuais visual e auditivo, funções cognitivas, a paciente apresentou exploração sensoriomotora, com pouca interação e atenção compartilhada e dificuldade de contato de olhos; comunicação predominantemente gestual, não havendo registros de atos comunicativos verbais. Apresentou funções comunicativas de pedido de ação, exclamativa, exploratória e protesto, e grande uso de função não focalizada. A compreensão oral mostrou-se alterada, gestos representativos esporádicos, processos perceptuais funcionais e lateralidade indefinida. No Denver II, falhou nas áreas pessoal-social, linguagem, motor fino e grosseiro. CONCLUSÃO: a paciente apresentou diagnóstico fonoaudiológico de Distúrbio de Linguagem e Disfagia Neurogênica Orofaríngea moderada sendo necessária intervenção fonoaudiológica a fim de maximizar a comunicação, bem como adequar as estruturas e funções motoras orofaciais.BACKGROUND: phonoaudiological evaluation of rare occurrence syndrome. PROCEDURES: describe the performance shown in phonoaudiological clinical evaluation of a patient with genetic diagnosis of Sturge-Weber Syndrome. Evaluation of the drive

  6. A型肉毒毒素治疗Meige综合征的方法及效果分析%Botulinum toxin type A treatment of Meige syndrome of the method and result analysis

    Institute of Scientific and Technical Information of China (English)

    汪健; 高平峰; 周发明; 席刚明

    2011-01-01

    Objective Discusses botulinum toxin type A treatment of Meige syndrome the method and the effect.Methods 47 patients under the guidance of the EMG needle electrode with a double as the syringe,Spasm sites in patients with botulinum toxin type A intramuscular injection,each injected volume 0.1 ~0.2mi (including botulinum toxin 2.5~5U),number of injection points to 8 points points.According to Cohen,Albert spasm intensity grading evaluation curative effect.Results After the injection,the general 3~4days of effect,the curative effect continued for 3~6 months,the recrudescence duplicate injection was still effective,After the treatment,the patient myospasm intensity obvious drop, the comparison has the extremely significance difference before the treatment (P<0.01).The symptom alleviates and the obvious alleviation completely reaches 89.4% ,around the treatment the curative effect comparison has the extremely significance difference (P<0.01).Adverse reactions are mainly: local edema,bite muscle weakness,ptosis and so on,generally all can recover within two weeks.Conclusions Local injection of botulinum toxin type A treatment of Meige syndrome is a safe and effective and feasible treatment.%目的:探讨A型肉毒毒素治疗Meige综合征的方法及疗效.方法:47例患者在肌电图引导下用兼作注射器的针电极进行,在患者肌痉挛部位用A型肉毒毒素肌肉内注射,每点注射量为0.1~0.2ml(含肉毒毒素2.5~5 U),注射点数为数点~8点.根据Cohen、Albert痉挛强度分级评估疗效.结果:注射后一般3~4天起效,疗效持续3~6个月,复发者重复注射仍有效.治疗后患者肌痉挛强度明显下降,与治疗前比较有极显著性差异(P<0.01);症状完全缓解和明显缓解者达89.4%,治疗前后疗效比较有极显著性差异(P<0.01).不良反应主要有:局部水肿、咬肌无力、眼睑下垂等,一般两周内均能恢复.结论:局部注射A型肉毒毒素治疗Meige综合征为

  7. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  8. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  9. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  10. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  11. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  12. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  13. Fatigue syndrome in sarcoidosis.

    Science.gov (United States)

    Górski, Witold; Piotrowski, Wojciech J

    2016-01-01

    Sarcoidosis is an inflammatory disease of unknown etiology. Most commonly it results in the formation of non-caseating granulomas in intrathoracic lymph nodes and lung parenchyma, but the clinical course and picture may be complicated by extrapulmonary involvement and many non-respiratory signs and symptoms which are directly related to the disease. In addition, sarcoidosis patients may suffer from a plethora of symptoms of uncertain or unknown origin. Fatigue is one of these symptoms, and according to some authors it is reported by the majority of patients with active sarcoidosis, but also by a smaller proportion of patients with inactive sarcoidosis, or even with complete clinical and radiological remission. Therefore the term fatigue syndrome is frequently used to name this clinical problem. The definition of fatigue syndrome in sarcoidosis is imprecise and the syndrome is usually recognized by use of validated questionnaires. In this review the uptodate knowledge in this field was presented and different challenges connected with this syndrome were described.

  14. Childhood myelodysplastic syndrome.

    Science.gov (United States)

    Chatterjee, Tathagata; Choudhry, V P

    2013-09-01

    Myelodysplastic syndrome (MDS) comprises of a heterogeneous group of bone marrow disorders resulting from a clonal stem cell defect characterised by cytopenias despite a relatively hypercellular marrow, ineffective hematopoiesis, morphological dysplasia in the marrow elements, no response to hematinics such as iron, B12 or folic acid and risk of progression to leukemia. Myelodysplastic syndrome in childhood is extremely rare and accounts for less than 5% of all hematopoietic neoplasms in children below the age of 14 y. The primary MDS in children, also known as de novo MDS differs from secondary MDS which generally follows congenital or acquired bone marrow (BM) failure syndromes as well as from therapy related MDS, commonly resulting from cytotoxic therapy. MDS associated with Down syndrome which accounts for approximately one-fourth of cases of childhood MDS is now considered a unique biologic entity synonymous with Down syndrome-related myeloid leukemia and is biologically distinct from other cases of childhood MDS. Refractory cytopenia of childhood (RCC) is the commonest type of MDS. Genetic changes predisposing to MDS in childhood remain largely obscure. Monosomy 7 is by-far the commonest cytogenetic abnormality associated with childhood MDS; however most cases of RCC show a normal karyotype. Complex cytogenetic abnormalities and trisomy 8 and trisomy 21 are also occasionally observed. The most effective and curative treatment is Hematopoietic stem cell transplantation and this is particularly effective in children with the monosomy 7 genetic defect as well as those displaying complex karyotype abnormalities provided it is instituted early in the course of the disease.

  15. 新生儿短肠综合征的远期疗效、手术评价与选择%Logn-term Results and Evaluation of Surgical Procedures in Neonatal Short Bowel Syndrome

    Institute of Scientific and Technical Information of China (English)

    褚先秋

    1997-01-01

    Objective:To evaluate the long-term results and the value of surgical procedures in neonatal short bowel syndrome (NSBS).Methods:Fourteen cases of NSBS followed-up for more than 5 years were reviewed.Nine of them underwent operation,and 5 received TPN treatment.Results:Eight of the 9 cases survived after operation,while only 1 survived by TPN therapy.The surgical methods adopted were as follows:recirculation intestinal loop formation,reverse loop interposition,new mucosa generation and colon interposition.Conclusions:The follow-up results over 5 years demonstrate that the new mucosa generation and colon interposition should be taken for choice in NSBS.%目的:了解新牛儿短肠综合征(NSBS)的远期疗效以及评价各种术式.方法:手术治疗的9例与非手术治疗的5例共14例NSBS,5种术式:小肠肠袢冉循环术(1例)、小肠肠袢倒置术(2例)、小肠瓣膜成形术(2例)、小肠新粘膜再生术(3例)、结肠间置术(1例).结果:经过5年以上的随访,手术组9例巾8例存活,非手术组5例仅1例存活.小肠新粘膜再生术与结肠间置术的远期疗效最好.小肠肠袢再循环术与小肠肠袢倒置术3例中2例脂肪吸收不良.小肠瓣膜成形术2例中1例尿中尿兰母>100 mg/24h,说明蛋白质吸收尚未完全恢复.

  16. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  17. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  18. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  19. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  20. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  1. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  2. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  3. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  4. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, a ...

  5. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  6. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  7. Autoimmune Polyglandular Syndrome Type 1

    OpenAIRE

    Ponranjini, Vedeswari C.; Jayachandran, S; L Kayal; K Bakyalakshmi

    2012-01-01

    Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison′s disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case o...

  8. Dyke-Davidoff-Masson Syndrome

    OpenAIRE

    Zawar, Ifrah; Khan, Ashfa A.; Sultan, Tipu; Rathore, Ahsan W.

    2015-01-01

    The Dyke-Davidoff-Masson Syndrome (DDMS) results from an insult to the growing brain in utero or early infancy, which lead to loss of neurons compromising the growth of the brain. Clinical presentation includes seizures, hemiparesis, facial asymmetry, and learning disability. Radiological findings include cerebral atrophy on one side. Here, we present a case with status epilepticus who had underlying DDMS. It is a rare syndrome and uncommon cause for status epilepticus. Infections of CNS, hyp...

  9. Neurogenic bladder in Hunter's syndrome.

    Science.gov (United States)

    Koyama, K; Moda, Y; Sone, A; Tanaka, H; Hino, Y

    1994-01-01

    We encountered a rare patient with Hunter's syndrome who exhibited urinary retention as a result of a neurogenic bladder, uninhibited detrusor contractions, and detrusor-sphincter dyssynergia. Neurological findings were consistent with cervical myelopathy and cervical MR imaging showed very narrow segments at the cord level C2-4. We speculate that this Hunter's syndrome patient has cervical myelopathy and that this neurological dysfunction causes the neurogenic bladder. PMID:8014981

  10. Metabolic syndrome and professional aptitude

    OpenAIRE

    Dorota Rębak; Edyta Suliga; Stanisław Głuszek

    2016-01-01

    The development of civilisation has resulted in a growing problem of metabolic diseases, including metabolic syndrome. Scientific studies show that this disease is an epidemic of the 21st century. Metabolic syndrome is a collection of mutually related metabolic factors, such as obesity, impaired glucose tolerance, lipid disorders, arterial hypertension, and pro-inflammatory and prothrombotic state, increasing the risk of the development of atherosclerosis and type 2 diabetes, and their cardio...

  11. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  12. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  13. Trisomy 18 (Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Poureisa

    2009-01-01

    Full Text Available Description and Definition "n"n Synonym: Edward syndrome Characterized by malformations of multiple organ systems, trisomy 18 has an incidence of 3 in 10000 live births. Abnormalities detectable by ultrasound Common findings Agenesis of the corpus callosum Choroid plexus cysts Posterior fossa abnormalities Micrognathia Low-set ears Microphthalmous Hypertelorism Short radial ray Clenched hand with overlapping index finger Clubbed foot Rocker-bottom foot Renal anomalies hydronephrosis Omphalocele Diaphragmatic hernia Cryptorchidism Heart defects Single umbilical artery Intrauterine growth restriction Polyhydramnios Nuchal lucency Occasional findings Meningomyelocele Ventriculomegaly Cleft lip and plate Major differential diagnoses Freeman-Sheldon syndrome (clenched hands and intrauterine growth restriction Pena Shokeir syndrome (pseudo-trisomy 18 Smith-Lemli-Opitz syndrome (clenched hands and intrauterine grown restriction Triploidy (intrauterine growth restriction Trisomy 9 Other multiple malformation syndromes associated with intrauterine growth retardation, limb anomalies and/ or heart defects. Ultrasound diagnosis Prenatal; ultrasound diagnosis has been established in the first trimester, based on the finding of a nuchal lucency. Detectable features on the early second trimester include abnormal forearms, clenched hands, clubbed feet, omphalocele and a major heart defect. The features of trisomy 18 are detectable in 80% of affected fetuses in the second trimester. Sonography is often used to evaluate fetuses for the prsence of trisomy 18 when choroid plexus cysts are present, or when the triple screen results in a low level of maternal serum alpha- fetoprotein, estriol and human chorionic  gonadotropin combination. Although trisomy 18 occurs in 1 in 100 fetuses with choroid plexus cysts, if it is an isolated finding, the risk for trisomy 18 falls below 1 in 400. Documenting an open hand is very helpful as most fetuses with trisomy 18 are

  14. [A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?].

    Science.gov (United States)

    Slimani, S; Sahraoui, M; Bennadji, A; Ladjouze-Rezig, A

    2014-08-01

    Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.

  15. A study to detect HELLP syndrome and partial HELLP syndrome among preeclamptic mothers and their impact on fetomaternal outcome

    Directory of Open Access Journals (Sweden)

    Abhijit Rakshit

    2014-01-01

    Full Text Available Objective: The purpose of the study was to detect & evaluate the feto-maternal outcome of HELLP syndrome & partial HELLP syndrome among preeclamptic mothers. Materials and methods: This cross sectional observational study analysed feto-maternal outcome in 44 patients with HELLP syndrome and 32 patients with partial HELLP syndrome and compared with 556 patients having preeclampsia without features of HELLP syndrome. Results: 600 patients were included in this study. The prevalence of HELLP syndrome and partial HELLP syndrome were found to be 7.3% and 5.3% respectively in preeclampsia. The systolic blood pressure, gestational age at admission and during delivery, haematological and biochemical variables, rate of spontaneous vaginal delivery and type of anaesthesia were significantly different in HELLP syndrome and partial HELLP syndrome than in the preeclampsia group. There were statistically significant difference in perinatal outcome like birth weight, intrauterine death, neonatal death, and admission in NICU. Eclampsia was significantly increased in both HELLP syndrome and partial HELLP syndrome. Conclusion: Both HELLP and partial HELLP syndrome must be diagnosed as soon as possible in pregnant or post partum women with preeclampsia. HELLP syndrome is severe than preeclampsia in terms of maternal and perinatal outcome. Partial HELLP syndrome is almost as grave as HELLP syndrome.

  16. Short-term antidiabetic treatment with insulin or metformin has a similar impact on the components of metabolic syndrome in women with gestational diabetes mellitus requiring antidiabetic agents: results of a prospective, randomised study.

    Science.gov (United States)

    Zawiejska, A; Wender-Ozegowska, E; Grewling-Szmit, K; Brazert, M; Brazert, J

    2016-04-01

    Gestational diabetes mellitus (GDM) is associated with an increased prevalence of fetal and maternal complications primarily caused by maternal hyperglycemia, which results in abnormal fetal growth. Diet modification is a common first step in the treatment of GDM, followed by antidiabetic pharmacotherapy if this approach fails. Insulin therapy is generally accepted; however, oral hypoglycemic agents have been used in this population. In this prospective, randomised study, we compared maternal metabolic status after treatment with insulin or metformin. Pregnant women (gestational age: ≥ 20 weeks) with GDM requiring medical hypoglycemic treatment were randomly allocated to the Metformin (n = 35) or Insulin (n = 43) Groups. Maternal metabolic status - assessed by glycated hemoglobin (HBA1c) level, glycemic profile, insulin concentration, Homeostatic Model Assessment - Insulin Resistance index, and lipids - was recorded at booking and throughout pregnancy. The characteristics of the study group were: maternal age 33.5 ± 5.9 years, gestational age at baseline 28.5 ± 3.5 weeks, prepregnancy body mass index (BMI) 32.2 ± 3.5 kg/m(2), HbA1c at baseline 5.6 ± 0.6%, and average daily glycemia 5.9 ± 0.6 mmol/dl. Fasting glycemia at term was significantly lower in the Insulin Group but there were no significant differences in mean daily glycemia, HbA1c and BMI at term between the groups. Longitudinally, there was a small but significant increase in BMI and a significant increase in high-density lipoprotein-cholesterol in the Insulin Group and a significant increase in the atherogenic index of plasma (AIP) and a trend towards higher triglycerides in the Metformin Group. Both fasting and average daily glycemia were significantly reduced following treatment in both groups. No such change was evident for HbA1c. In a relative risk analysis, metformin treatment was associated with an insignificant elevated risk of HbA1c, triglycerides and lipid indices falling within the

  17. Pseudo-differentiation syndrome

    Directory of Open Access Journals (Sweden)

    Dina Khalaf

    2011-12-01

    Full Text Available A patient with relapsed acute myeloid leukemia (AML (M2 FAB classification developed a differentiating syndrome upon receiving Decitabine therapy given with palliative intent. The patient presented with high grade fever, constitutional symptoms and severe chest symptoms with no underlying lung condition. Chest x-ray (CXR showed diffuse pulmonary infiltrates. Septic work up followed by intravenous broad spectrum antimicrobials did not improve his condition. Pan cultures’ results were repeatedly negative. Treatment with high dose Dexamethasone (DXM resulted in marked clinical and radiological improvement. Our patient initially presented with relapsed AML (M2 Fab classification with t (8; 21; negative FMS-like tyrosine kinase -internal tandem duplication (FLT3-ITD which are all good prognostic factors, yet the patient had an atypical clinical course with early frequent relapses, differentiation syndrome associated with Decitabine therapy and late in his disease, he developed a granulocytic sarcoma.

  18. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES) 2001–2008

    OpenAIRE

    Fulgoni Victor L; Dreher Mark; Davenport Adrienne J

    2013-01-01

    Abstract Background Avocados contain monounsaturated fatty acids (MUFA) dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado cons...

  19. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  20. PIRIFORMIS SYNDROME: A REVIEW

    OpenAIRE

    Subhasis Ranjan; Souvik; Alok Sovon; Arijit; Rajib; Amit Kumar

    2014-01-01

    Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. ...

  1. [Right ovarian vein syndrome].

    Science.gov (United States)

    Arvis, G

    1985-01-01

    Right ovarian vein syndrome is revealed in pregnancy by right lumbar pains, and even by nephritic colics. It results from a congenital malposition of the right ovarian vein, which presses the right ureter on the external iliac artery. Diagnosis is by intravenous urography and retrograde ureteral pyelography. If pain persists despite treatment by analgesics, it may be necessary to place a double-J catheter, and to operate after delivery to ligate the ovarian vein.

  2. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  3. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.

    Science.gov (United States)

    Higurashi, M; Oda, M; Iijima, K; Iijima, S; Takeshita, T; Watanabe, N; Yoneyama, K

    1990-01-01

    The results of a survey of the birth prevalence of congenital anomalies among 27,472 consecutive newborn babies at a large maternity hospital in Tokyo are reported. There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each with partial monosomy 4p, partial trisomy 5p, partial trisomy 6p, partial trisomy 9p, partial trisomy 9q, partial monosomy 10p, and partial monosomy 13q. Single cases of the following were observed: the Hallermann-Streiff syndrome, the Treacher-Collins syndrome, achondroplasia, arthrogryposis, the Beckwith-Wiedemann syndrome, the asplenia syndrome, the Klippel-Trenaunay-Weber syndrome, the Marfan syndrome, the Carpenter syndrome, the Goldenhar syndrome, and the Pierre Robin syndrome. The results of follow-ups to determine the life-prognosis of each patient with an autosomal aberration are reported.

  4. 武汉地区2046例孕中期孕妇唐氏综合征筛查的结果分析%Analysis on results of Down's syndrome screening in 2046 pregnant women in second trimester in Wuhan

    Institute of Scientific and Technical Information of China (English)

    吴行飞; 石鑫玮; 赵岚; 段秀娟; 崔天盆; 陈馨; 胡必成; 乔福元

    2013-01-01

    目的 探讨孕妇孕中期唐氏综合征筛查对异常胎儿检出的价值,分析孕妇年龄与唐氏综合征筛查风险度之间的关系.方法 采用化学发光免疫技术定量检测孕中期(14-22周)孕妇血清中的三项指标(AFP、HCG、uE3),通过配套软件估算唐氏综合征、爱德华氏综合征、神经管缺陷的风险度.以35岁为界限将筛查孕妇分为两组,比较它们之间的风险差异.结果 筛查2046例孕妇有179例筛查为高风险,其中唐氏综合征高风险136例、爱德华氏综合征高风险15例、神经管缺陷高风险29例(1例2项指标均为高风险).经过产前诊断并结合回访数据发现179名高风险孕妇中,有唐氏综合征4例,爱德华氏综合征1例,神经管缺陷2例,其他异常染色体2例.经过统计分析,不同年龄组间的唐氏综合征筛查高风险率有显著性差异.结论 孕中期血清唐氏综合征筛查是预防胎儿出生缺陷的有效检测方法.高龄孕妇的逐步增多加大了患儿产生的风险,这应引起相关部门的重视,也是优生优育工作面临的新问题.%Objective:To explore the value of Down's syndrome screening in second trimester for detecting the abnormal fetuses and analyze the relationship between the maternal age and the risk for Down's syndrome screening.Methods:The study detected the concentration of AFP,HCG and uE3 in serum of pregnant women in second trimester (gestational week:14-22) by chemiluminescence assay; estimated the risk of Down's syndrome,Edward's syndrome and neural tube defect by software.The cases were divided into two groups according to the age; and the risks in the two groups were compared.Results:Among 2046 cases,there were 179 cases with high risk for screening (136 cases with high risk for Down syndrome,15 cases with high risk for Edward's syndrome,29 cases with high risk for neural tube defect).The results of prenatal diagnosis showed that there were 4 cases with Down syndrome,1 case with

  5. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  6. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  7. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  8. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  9. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  10. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  11. [Definition and terminology of Raynaud's syndrome].

    Science.gov (United States)

    Heidrich, H

    2008-08-01

    Physicians have for a long time used different definitions, terminology and differential diagnoses for Raynaud's syndromes, which has resulted in diagnostic, therapeutic and prognostic problems. In order for difficulties of understanding to be prevented, the terminology should be restricted to the most common terms in international use, i. e. primary, secondary and suspected secondary Raynaud's syndrome. The characteristics of those three forms of Raynaud's syndrome are outlined.

  12. Features of Polycystic Ovary Syndrome in adolescence

    OpenAIRE

    Tsikouras, P.; Spyros, L; Manav, B; Zervoudis, S.; Poiana, C; Nikolaos, T.; Petros, P; Dimitraki, M; Koukouli, C; Galazios, G; von Tempelhoff, GF

    2015-01-01

    Rationale: To elucidate the prepubertal risk factors associated with the development of Polycystic Ovary Syndrome (PCOS) and determine the special clinical manifestations of the syndrome in this transitional time of a woman’s life. Objective: To propose therapeutic targets and regimens, not only to prevent the long-term complications of the syndrome, but also to improve the self-esteem of a young girl who matures into womanhood. Methods and Results: A systematic review of literature was perfo...

  13. Percutaneous transluminal coronary angioplasty in acute ischemic syndromes

    NARCIS (Netherlands)

    H. Suryapranata (Haryanto)

    1988-01-01

    textabstractAcute myocardial ischemic syndromes are apparently related to the underlying pathophysiology leading to the clinical instability. Depending on the completeness and the duration of blood deprivation, different clinical syndromes result, such as sudden death, acute transmural infarction, n

  14. [Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].

    Science.gov (United States)

    Kasten, Robert; Pfirrmann, Gudrun; Voigtländer, Volker

    2005-08-01

    A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.

  15. Ectopic corticotroph syndrome

    Directory of Open Access Journals (Sweden)

    Penezić Zorana

    2004-01-01

    Full Text Available INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor, or excessive autonomous secretion of cortisol from a hyperfunctioning adrenal adenoma or carcinoma. Other than this broad ACTH-dependent and ACTH-independent categories, the syndrome may be caused by ectopic CRH secretion, PPNAD, MAH, ectopic action of GIP or catecholamines, and other adrenel-dependent processes associated with adrenocortical hyperfunction. CASE REPORT A 31 year-old men with b-month history of hyperpigmentation, weight gain and proximal myopathy was refereed to Institute of Endocrinology for evaluation of hypercortisolism. At admission, patient had classic cushingoid habit with plethoric face, dermal and muscle atrophy, abdominal strie rubrae and centripetal obesity. The standard laboratory data showed hyperglycaemia and hypokaliemia with high potassium excretion level. The circadian rhythm of cortisol secretion was blunted, with moderately elevated ACTH level, and without cortisol suppression after low-dose and high-dose dexamethason suppression test. Urinary 5HIAA was elevated. Abdominal and sellar region magnetic resonance imaging was negative. CRH stimulation resulted in ACTH increase of 87% of basal, but without significant increase of cortisol level, only 7%. Thoracal CT scan revealed 14 mm mass in right apical pulmonary segment. A wedge resection of anterior segment of right upper lobe was performed. Microscopic evaluation showed tumor tissue consisting of solid areas of uniform, oval cells with eosinophilic cytoplasm and centrally

  16. 唇腺病理阳性判定方法对于燥综合征的诊断价值%Value of positive labial salivary glands pathology results in diagnosing Sjǎgren's syndrome

    Institute of Scientific and Technical Information of China (English)

    李娅; 费允云; 张文; 赵岩; 张奉春

    2013-01-01

    Objective To detect the effect of positive labial salivary glands pathology results derived from different methods for diagnosis of Sjogren's syndrome(SS).Methods From January 2009 to October 2010,21 patients with SS and positive labial salivary glands pathology were studied.Ten biopsies were focal lymphocytic sialadenitis (FLS),with focus score (FS) ≥ 1 (group A).The presence of focal infiltrates of lymphocytes in labial gland interstitial tissue was defined as positive in the other 11 biopsies (group B).Clinical data were collected,and student's t-test,chi-square test were used to evaluate the effect of positive labial glands pathology results derived from different methods for diagnosis of SS.Results 1) The positive rate of arthralgia was significantly higher in group A than group B (P < 0.01).2) Group A's left eye BUT was lower than group B,and the number of corneal fluorescein staining spot was more than that in group B,while the positive rate of left corneal staining was higher than group B (P < 0.05).3) There was no difference between two groups in positive rates of high titer ANA and anti-SSA/SSB antibodies.Conclusions The labial salivary glands pathology derived from the two methods had no obvious difference in diagnosing SS.%目的 探讨不同判定方法得出的唇腺病理阳性结果对干燥综合征(SS)诊断的影响.方法 收集2009年1月至2010年10月北京协和医院风湿免疫科诊断为SS,且唇腺病理阳性的患者21例,其中10例唇腺标本符合灶性淋巴细胞浸润性唾液腺炎(FLS)表现,灶性指数(FS)≥1(A组),余11例唇腺标本中见到≥50个淋巴细胞于间质聚集(B组).收集患者临床资料,采用独立样本t检验、卡方检验评价不同检测方法得出的唇腺病理阳性结果对SS患者疾病活动和脏器损伤的影响.结果 1)A组患者关节痛发病率显著高于B组(P<0.01),其他临床特征间无差异.2)A组患者左眼BUT低于B组,左眼角膜染色着色斑数目高于B

  17. Down Syndrome (For Parents)

    Science.gov (United States)

    ... en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is a ... rises to about 1 in 100. continue How Down Syndrome Affects Kids Kids with Down syndrome tend to ...

  18. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  19. KBG syndrome

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    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  20. Endovascular Management of May-Thurner Syndrome

    Science.gov (United States)

    Al Safran, Zakareya; Hasan, Hosam; Zeid, Wael Abu

    2012-01-01

    May-Thurner syndrome or iliac vein compression syndrome is associated with deep vein thrombosis (DVT) resulting from chronic compression of the left iliac vein against lumbar vertebrae by the overlying right common iliac artery. Historically, May-Thurner syndrome has been treated with anticoagulation therapy. However, this therapy can be problematic when given alone, because it prevents the propagation of the thrombus without eliminating the existing clot. Furthermore, it does not treat the underlying mechanical compression. Consequently, syndrome who was managed by anticoagulation therapy alone, there is a significant chance that the patient will develop recurrent deep vein thrombosis or post thrombotic syndrome or both. Recently, both retrospective and prospective studies have suggested that endovascular management should be front-line treatment; endovascular management actively treats both the mechanical compression with stent placement and the thrombus burden with chemical dissolution. We report our case of 53 years old male patient with May Thurner syndrome who managed by endovascular treatment. PMID:23555515

  1. Memory coding in individuals with Down syndrome.

    Science.gov (United States)

    Lanfranchi, Silvia; Toffanin, Elena; Zilli, Simona; Panzeri, Benedetta; Vianello, Renzo

    2014-01-01

    Previous research has identified a deficit in phonological short-term memory in individuals with Down syndrome. The present work aimed to analyze how a group of 30 individuals with Down syndrome performed in a picture span task compared with 30 typically developing children of the same mental age. The task involved four conditions (i.e., dissimilar, phonologically similar, visually similar, and long-name items) chosen to analyze the strategy used by individuals with Down syndrome to code visually presented nameable items. Individuals with Down syndrome performed less well than typically developing children. Both groups showed the visual similarity effect. Taken together, our results confirm that individuals with Down syndrome have a verbal working memory deficit, even when nameable items are presented visually. Mental age appears to be an important determinant of memory coding stage in individuals with Down syndrome.

  2. Central Neuropathic Pain Syndromes.

    Science.gov (United States)

    Watson, James C; Sandroni, Paola

    2016-03-01

    Chronic pain is common in patients with neurologic complications of a central nervous system insult such as stroke. The pain is most commonly musculoskeletal or related to obligatory overuse of neurologically unaffected limbs. However, neuropathic pain can result directly from the central nervous system injury. Impaired sensory discrimination can make it challenging to differentiate central neuropathic pain from other pain types or spasticity. Central neuropathic pain may also begin months to years after the injury, further obscuring recognition of its association with a past neurologic injury. This review focuses on unique clinical features that help distinguish central neuropathic pain. The most common clinical central pain syndromes-central poststroke pain, multiple sclerosis-related pain, and spinal cord injury-related pain-are reviewed in detail. Recent progress in understanding of the pathogenesis of central neuropathic pain is reviewed, and pharmacological, surgical, and neuromodulatory treatments of this notoriously difficult to treat pain syndrome are discussed.

  3. Carpal tunnel syndrome treatment

    Directory of Open Access Journals (Sweden)

    Emilio Filippucci

    2011-09-01

    Full Text Available Carpal tunnel syndrome, the most common peripheral neuropathy, results from compression of the median nerve at the wrist, and is a cause of pain, numbness and tingling in the upper extremities and an increasingly recognized cause of work disability. If carpal tunnel syndrome seems likely, conservative management with splinting should be initiated. Moreover, it has suggested that patients reduce activities at home and work that exacerbate symptoms. Pyridoxine and diuretics, since are largely utilised, are no more effective than placebo in relieving the symptoms. Non steroidal anti-inflammatory drugs and orally administered corticosteroids can be effective for short-term management (two to four weeks, but local corticosteroid injection may improve symptoms for a longer period. Injection is especially effective if there is no loss of sensibility or thenar-muscle atrophy and weakness, and if symptoms are intermittent rather than constant. If symptoms are refractory to conservative measures, the option of surgical therapy may be considered.

  4. [Carpal tunnel syndrome treatment].

    Science.gov (United States)

    De Angelis, Rossella; Salaffi, Fausto; Filippucci, Emilio; Grassi, Walter

    2006-01-01

    Carpal tunnel syndrome, the most common peripheral neuropathy, results from compression of the median nerve at the wrist, and is a cause of pain, numbness and tingling in the upper extremities and an increasingly recognized cause of work disability. If carpal tunnel syndrome seems likely, conservative management with splinting should be initiated. Moreover, it has suggested that patients reduce activities at home and work that exacerbate symptoms. Pyridoxine and diuretics, since are largely utilised, are no more effective than placebo in relieving the symptoms. Non steroidal anti-inflammatory drugs and orally administered corticosteroids can be effective for short-term management (two to four weeks), but local corticosteroid injection may improve symptoms for a longer period. Injection is especially effective if there is no loss of sensibility or thenar-muscle atrophy and weakness, and if symptoms are intermittent rather than constant. If symptoms are refractory to conservative measures, the option of surgical therapy may be considered.

  5. Sick sinus syndrome: a review.

    Science.gov (United States)

    Semelka, Michael; Gera, Jerome; Usman, Saif

    2013-05-15

    Sick sinus syndrome refers to a collection of disorders marked by the heart's inability to perform its pacemaking function. Predominantly affecting older adults, sick sinus syndrome comprises various arrhythmias, including bradyarrhythmias with or without accompanying tachyarrhythmias. At least 50 percent of patients with sick sinus syndrome develop alternating bradycardia and tachycardia, also known as tachy-brady syndrome. Sick sinus syndrome results from intrinsic causes, or may be exacerbated or mimicked by extrinsic factors. Intrinsic causes include degenerative fibrosis, ion channel dysfunction, and remodeling of the sinoatrial node. Extrinsic factors can be pharmacologic, metabolic, or autonomic. Signs and symptoms are often subtle early on and become more obvious as the disease progresses. They are commonly related to end-organ hypoperfusion. Cerebral hypoperfusion is most common, with syncope or near-fainting occurring in about one-half of patients. Diagnosis may be challenging, and is ultimately made by electrocardiographic identification of the arrhythmia in conjunction with the presence of symptoms. If electrocardiography does not yield a diagnosis, inpatient telemetry monitoring, outpatient Holter monitoring, event monitoring, or loop monitoring may be used. Electrophysiologic studies also may be used but are not routinely needed. Treatment of sick sinus syndrome includes removing extrinsic factors, when possible, and pacemaker placement. Pacemakers do not reduce mortality, but they can decrease symptoms and improve quality of life.

  6. Eagle’s Syndrome: A case report

    OpenAIRE

    Yusuf Ziya Akpınar; , Betül Yılmaz; Numan Tatar; Zülfikar Demirtağ

    2014-01-01

    Eagle’s syndrome result from elongation of styloid process or mineralization of styloid ligament. Eagle’s syndrome include symptoms such as  foreign body sensation, pain in the area of tonsillar fossa, pain which spreading toward ear. Diagnosis of Eagle’s syndrome can usually be made on physical examination by digital palpation of the styloid process in the tonsiller fossa. The treatment of Eagle’s syndrome is primarily surgical. In this article, we presented a 57-year-old male patient who wa...

  7. Revisiting guidelines for integration of flow cytometry results in the WHO classification of myelodysplastic syndromes-proposal from the International/European LeukemiaNet Working Group for Flow Cytometry in MDS.

    Science.gov (United States)

    Porwit, A; van de Loosdrecht, A A; Bettelheim, P; Brodersen, L Eidenschink; Burbury, K; Cremers, E; Della Porta, M G; Ireland, R; Johansson, U; Matarraz, S; Ogata, K; Orfao, A; Preijers, F; Psarra, K; Subirá, D; Valent, P; van der Velden, V H J; Wells, D; Westers, T M; Kern, W; Béné, M C

    2014-09-01

    Definite progress has been made in the exploration of myelodysplastic syndromes (MDS) by flow cytometry (FCM) since the publication of the World Health Organization 2008 classification of myeloid neoplasms. An international working party initiated within the European LeukemiaNet and extended to include members from Australia, Canada, Japan, Taiwan and the United States has, through several workshops, developed and subsequently published consensus recommendations. The latter deal with preanalytical precautions, and propose small and large panels, which allow evaluating immunophenotypic anomalies and calculating myelodysplasia scores. The current paper provides guidelines that strongly recommend the integration of FCM data with other diagnostic tools in the diagnostic work-up of MDS.

  8. Clobazam is equally safe and efficacious for seizures associated with Lennox-Gastaut syndrome across different age groups: Post hoc analyses of short- and long-term clinical trial results.

    Science.gov (United States)

    Ng, Yu-Tze; Conry, Joan; Mitchell, Wendy G; Buchhalter, Jeffrey; Isojarvi, Jouko; Lee, Deborah; Drummond, Rebecca; Chung, Steve

    2015-05-01

    The peak age at onset of Lennox-Gastaut syndrome (LGS) is between 3 and 5years. Patients with LGS frequently experience multiple types of treatment-refractory seizures and require lifelong therapy with several antiepileptic drugs. Here, post hoc analyses of clinical trials (phase III trial OV-1012 and open-label extension trial OV-1004) provide short- and long-term efficacy and safety data of adjunctive clobazam in patients with LGS stratified by age at baseline (≥2 to clobazam over the short and longterm was similarly effective and well-tolerated in both pediatric and adult patients with LGS.

  9. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  10. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  11. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  12. Glucagonoma without glucagonoma syndrome

    Directory of Open Access Journals (Sweden)

    Čolović Radoje

    2010-01-01

    Full Text Available Introduction. Glucagonomas are rare, frequently malignant tumours, arising from the Langerhans' islets of the pancreas. They usually secrete large amounts of glucagon that can cause a characteristic 'glucagonoma syndrome', which includes necrolytic migratory erythema, glucose intolerance or diabetes, weight loss and sometimes, normochromic normocytic anaemia, stomatitis or cheilitis, diarrhoea or other digestive symptoms, thoromboembolism, hepatosplenomegaly, depression or other psychiatric and paraneoplastic symptoms. In certain cases, some or all glucagonoma symptoms may appear late, or even may be completely absent. Case Outline. The authors present a 43-year-old woman in whom an investigation for abdominal pain revealed a tumour of the body of the pancreas. During operation, the tumour of the body of the pancreas extending to the mesentery measuring 85×55×55 mm was excised. Histology and immunohistochemistry showed malignant glucagonoma, with co-expression of somatostatin in about 5% and pancreatic polypeptide in a few tumour cells. The recovery was uneventful. The patient stayed symptom-free with no signs of local recurrence or distant diseases 15 years after surgery. Conclusion. Glucagonoma syndrome may be absent in glucagonoma tumour patients so that in unclear pancreatic tumours the clinician should frequently request the serum hormone level (including glucagon measurement by radioimmunoassay and the pathologist should perform immunohistochemistry investigation. Those two would probably result in discovery of more glucagonomas and other neuroendocrine tumours without characteristic clinical syndromes.

  13. Vitreomacular traction syndrome

    Institute of Scientific and Technical Information of China (English)

    Shao Lei; Wei Wenbin

    2014-01-01

    Objective This study aimed to review the available literature on vitreomacular traction (VMT) syndrome and propose the future study prospect in this field.Data sources The data used in this review were mainly obtained from articles listed in Medline and Pubmed (1970-2013).The search terms were "vitreomacular traction," "optical coherence tomography," "vitrectomy," and "ocriplasmin."Study selection Articles regarding the pathophysiology,diagnosis,and treatments of VMT were selected and reviewed.Results VMT syndrome is a persistent attachment of vitreous to the macula in eyes with an incomplete posterior vitreous detachment and considered to be an uncommon status which correlated with some other macular disorders.Optical coherence tomography (OCT) can support a new way to examine and classify VMT.Nonoperative and operative intervenes on this disease have been developed recently,especially the intravitreal medical therapy.Conclusions VMT syndrome may be associated with various disorders in the macular region,depending in part on the size and strength of the residual vitreomacular adhesion.Regular OCT monitoring is recommended to detect it.Patients with asymptomatic VMT should be observed for at least 2-3 months; nonoperative treatment with ocriplasmin should be considered when disorders persist; surgery is recommended if VMT-related disease is significant.

  14. Neuroleptic malignant syndrome: a preventive program.

    Science.gov (United States)

    Fernando, M L; Manchanda, R; Kirk, C

    1992-03-01

    Neuroleptic Malignant Syndrome is a very serious side effect of antipsychotic medications. The paper describes a preventative program which was instituted in an inpatient unit of a provincial psychiatric hospital. There have been no mortalities from Neuroleptic Malignant Syndrome (NMS) during this program. A suspicion of NMS by clinical evaluation and laboratory tests resulted in prompt management. The recommended management plan is described.

  15. Papillon-Lefevre syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Subramaniam P

    2008-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome.

  16. Addition and Subtraction by Students with Down Syndrome

    Science.gov (United States)

    Herrera, Aurelia Noda; Bruno, Alicia; Gonzalez, Carina; Moreno, Lorenzo; Sanabria, Hilda

    2011-01-01

    We present a research report on addition and subtraction conducted with Down syndrome students between the ages of 12 and 31. We interviewed a group of students with Down syndrome who executed algorithms and solved problems using specific materials and paper and pencil. The results show that students with Down syndrome progress through the same…

  17. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  18. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  19. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  20. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  1. An Analysis of Syndrome Coding

    Science.gov (United States)

    Amiruzzaman, Md; Abdullah-Al-Wadud, M.; Chung, Yoojin

    In this paper a detail analysis is presented based on BCH syndrome coding for covert channel data hiding methods. The experimented technique is nothing but a syndrome coding algorithm with a coset based approach, analyzed results are showing that the examined method has more flexibility to choose coset, also providing less modification distortion caused by data hiding. Analyzed method presented by clear mathematical way. As it is mathematical equation dependent, hence analyzed results are showing that the analyzed method has fast computation ability and find perfect roots for modification.

  2. Metabolic syndrome in Mexican adults: results from the National Health and Nutrition Survey 2006 Síndrome metabólico en adultos mexicanos: resultados de la Encuesta Nacional de Salud y Nutrición 2006

    Directory of Open Access Journals (Sweden)

    Rosalba Rojas

    2010-01-01

    Full Text Available OBJECTIVE: To examine the prevalence of metabolic syndrome (MS and its associated risk factors in Mexican adults aged 20 years or older, using data derived from the National Health and Nutrition Survey 2006 (ENSANUT 2006. MATERIAL AND METHODS: The ENSANUT 2006 was conducted between October 2005 and May 2006. Questionnaires were administered to 45 446 adult subjects aged 20 years or older who were residents from urban and rural areas. Anthropometric and blood pressure measurements were obtained from all subjects and fasting blood specimens were provided by 30% of participants. We randomly selected a sub-sample of 6 613 from which laboratory measurements were carried out for glucose, insulin, triglycerides, total cholesterol and HDL-cholesterol. For this analysis, we included only results from eight or more hours of fasting samples (n=6 021. We used individual weighted factors in the statistical analysis and considered the survey's complex sampling design to obtain variances and confidence intervals. All analyses were done using SPSS 15.0. RESULTS: In accordance with definitions by the National Cholesterol Education Program Adult Treatment Panel III (ATP III, the American Heart Association/National Heart, Lung and Blood Institute (AHA/NHLBI, and the International Diabetes Federation (IDF, the prevalence of MS in Mexican adults aged 20 years or older was 36.8, 41.6 and 49.8%, respectively. Women were more affected than men due to the higher prevalence of central obesity among females. Prevalence of MS increased with age and was higher among populations living in metropolitan areas, in the west-central region, and those with lower education. DISCUSSION: Regardless of the MS definition, a large proportion of Mexican adults has the condition, so preventive measures are needed to decrease the prevalence of the MS components in this population. MS can predict type 2 diabetes and cardiovascular disease, two of the main causes of death in the adult

  3. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  4. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    Science.gov (United States)

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  5. Restless Legs Syndrome in Pediatric Patients With Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Victoria Cheung BA

    2015-05-01

    Full Text Available Background. Restless legs syndrome (RLS is a sleep disorder characterized by an urge to move or the presence of unpleasant sensations in the extremities. The prevalence of RLS is higher in children and adults with chronic kidney disease and in adults with glomerular disease. Objective. To determine the prevalence of RLS in children with nephrotic syndrome. Methods. We studied 50 children with nephrotic syndrome and 22 controls. The following surveys were administered: Pediatric Emory RLS questionnaire, Pediatric Daytime Sleepiness Scale, and Pediatric Sleep Questionnaire. Results. Children with nephrotic syndrome were 9.0 ± 4.4 years old, 27 were male, and 27 were in remission. The prevalence of RLS was similar in the nephrotic syndrome cases and controls, whether or not indeterminate cases were considered positive: 14.0% versus 13.6% including indeterminate cases, and 8.0% versus 9.1% excluding indeterminate cases. Conclusion. RLS is not more common in children with glomerular disease compared to healthy controls.

  6. Trigeminal trophic syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    Sunil N Mishra

    2011-01-01

    Full Text Available Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The syndrome consists of a classic triad of anaesthesia, paraesthesia, and a secondary persistent or recurrent facial ulceration. We describe a 60 year-old woman who developed this syndrome as a sequel to the gasserian ganglion block for trigeminal neuralgia. She had also developed melasma within 1 year. A remarkable benefit was achieved by proper patient education and topical antibiotics which led to the healing of all ulcerations within 4 weeks. In the case reported here, the diagnosis of the trigeminal trophic syndrome was made primarily as a result of the physician′s experience with the syndrome previously.

  7. Angelman Syndrome.

    Science.gov (United States)

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  8. 中国ST段抬高急性冠状动脉综合征诊疗现况调查%Current clinical practice patterns and outcome for acute coronary syndromes in China: results of BRIG project

    Institute of Scientific and Technical Information of China (English)

    刘群; 赵冬; 刘军; 王薇; 刘静; 代表中国冠心病二级预防架桥工程研究协作组

    2009-01-01

    Objective To analyze current clinical management patterns and outcome of inpatients with ST segment elevation acute coronary syndromes (ACS) in China. Methods Totally 1304 in-patients with ST segment elevation ACS from 64 hospitals across China were recruited and a standard questionnaire was used to get information of the patients including demographic, treatments and in-hospital outcomes. Results (1) There were no significant differences in baseline characteristics between the patients from tertiary hospitals and that from the secondary hospitals. (2) Reperfusion therapy was applied more often in tertiary hospitals (57.9%) than in secondary hospitals (42.3%). Thrombolysis was more often used in secondary hospitals than that in tertiary hospitals (37.4% vs. 14.5%). The median time from pain onset to hospital was 240 min, the median time from admission to reperfusion was 60 min for thromhalysis and 110 min for PCI. (3) Statias and glycoprotein Ⅱb/Ⅲa antagonists were given more frequently in tertiary hospitals. (4) Major in-hospital events and death rates were significantly higher in secondary hospitals than in tertiary hospitals. Multivariate logistic regression analysis showed that age ≥ 75 years, hypertension, diabetes, reperfusion, aspirin, β-blocker and ACE/ARB inhibitor use were associated independently with in-hospital mortality. Conclusions There is a big gap between guidelines and current management of ST segment elevation ACS in China, especially in secondary hospitals.%目的 了解目前我国ST段抬高急性冠状动脉综合征(ACS)临床治疗及二级预防措施的实施状况.方法 在中国31个省市自治区选择33家三级医院和32家二级医院,每家医院选择住院患者50例,共计3323例,其中1304例(39.2%)为ST段抬高的ACS.采用问卷回顾形式收集住院患者临床治疗及二级预防信息.结果 (1)三级医院在人员及设备方面均优于二级医院,仅33.3%的二级医院拥有心脏导管检查设备;

  9. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  10. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    2008-01-01

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  11. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  12. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  13. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that ...

  14. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  15. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  16. Kleine-Levin Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  17. Locked-In Syndrome

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    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  18. Holmes-Adie Syndrome

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    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  19. Central Cord Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...